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Overview Generic Name: Miglustat Trade Name: Zavesca Drug Class: Substrate reduction therapy (SRT); glucosylceramide synthase inhibitor Administration: Oral capsules Indications Gaucher disease type 1...
Definition: Niemann–Pick Disease is a rare, inherited lysosomal storage disorder characterized by an abnormal accumulation of sphingomyelin, cholesterol, and other lipids in various organs, notably af...
Treatment Goals Short-Term Goals: Eradication of Epileptic Spasms. Resolution/prevention of hypsarrhythmia. Early achievement of these goals predicts better long-term outcomes. Long-Term Goals: Enduri...
Role of Vigabatrin Indication: Approved treatment for infantile spasms, especially in TS-associated IS. Mechanism of Action: Inhibits GABA-transaminase, increasing GABA levels in the brain. Efficacy:...
Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Introduction Defini...
Introduction Nature and Origin : Bromide is an inorganic ion similar to chloride. Naturally present in the environment, especially in seawater (approximately 65 mg/L). Found in significant amounts in...
Definition and Purpose AAC provides alternative methods of communication for individuals with severe speech impairments or lack of speech. Aims to enable independent communication and improve quality...
Aphasia/Dysphasia Acquired disruption of language function (expressive or receptive/mixed). Can be fluent or non-fluent . Causes: Brain trauma, stroke, cerebral infections (e.g., herpes simplex enceph...
Definition and Overview Posterior Fossa Syndrome (PFS) : A constellation of neurological and behavioral symptoms occurring in children following posterior fossa tumor resection. Incidence : Occurs in...
Dysarthria is a speech articulation impairment affecting intelligibility , particularly through consonant production. It can also disrupt phonation , resonation , and prosody , leading to slurred, eff...
Dysphonia is characterized by abnormalities in the pitch and volume of the voice, often manifesting as hoarseness or a reduced voice volume .
Developmental Dysarthria in Syndromic Conditions Causes : Often linked to structural brain anomalies such as perisylvian or perirolandic polymicrogyria, cerebellar anomalies, Joubert syndrome, and bra...
Childhood Apraxia of Speech is a complex, multifactorial speech motor programming disorder. Its diagnosis and management require a multidisciplinary approach that integrates speech therapy, cognitive...
Definition and Components of Language and Speech Language : A communication system acquired through use, involving symbols sequenced to share attention and ideas. Speech : One mechanism for expressing...
ICD-10 Classification of Speech, Language, and Communication Disorders
Rhabdomyolysis is the breakdown of skeletal muscle tissue, resulting in the release of muscle cell contents, including myoglobin , into the bloodstream. Myoglobinuria refers to the presence of myoglob...
Neuroleptic Malignant Syndrome (NMS) Definition : Neuroleptic Malignant Syndrome (NMS) is a rare, potentially life-threatening condition associated with the use of antipsychotic medications. It shares...
Malignant hyperthermia (MH) is a life-threatening pharmacogenomic disorder triggered by certain anesthetic agents (e.g., halothane) or depolarizing muscle relaxants like succinylcholine. These agents...
Schwartz–Jampel Syndrome (SJS) is a rare autosomal recessive disorder characterized by a combination of musculoskeletal abnormalities and continuous muscle contractions.
Hyperekplexia , also known as stiff baby syndrome , is a rare neurological disorder characterized by abnormal startle responses and muscle stiffness. The condition primarily affects neonates and infan...
Stiff Person Syndrome (SPS) is a rare neurological disorder typically affecting adults, with infrequent cases reported in children and adolescents. The condition is characterized by the following clin...
Peripheral Nerve Hyperexcitability Syndromes (PNH) Peripheral Nerve Hyperexcitability (PNH) syndromes encompass a spectrum of disorders, including Isaacs syndrome , neuromyotonia , and cramp-fascicula...
Brody disease is a rare genetic disorder affecting muscle function, classified as a form of myopathy. It typically presents in childhood and is characterized by symptoms such as progressive exercise-i...
Rippling Muscle Disease (RMD) is a rare inherited muscle disorder classified as a caveolinopathy , primarily caused by mutations in the CAV3 gene , which encodes caveolin-3 , a protein critical for mu...
Ion channel disorders, or channelopathies, are a group of conditions that involve dysfunctions in ion channels—integral membrane proteins regulating the flow of ions across cellular membranes. In skel...
Myotonic dystrophy (DM) is the most common form of myotonic myopathy, with an estimated prevalence of 1 in 7,000 people, though milder cases often go undiagnosed. Overview This multisystem disorder is...
LGMDs represent a heterogeneous group of inherited disorders primarily affecting the pelvic and shoulder girdle muscles , leading to muscle weakness and wasting. These conditions exhibit dystrophic mu...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare, genetically diverse muscle disorder characterized by a distinct clinical presentation. It is associated with mutations in several genes, many of whi...
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy characterized by progressive, often asymmetrical muscle weakness involving the face, scapular region, and limb girdle mu...
Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD) and the relatively new phenotype DMD associated dilated cardiomyopathy (DCM) are among the most recognized of a group of...
Congenital Muscular Dystrophy refers to a group of neuromuscular disorders manifesting as hypotonia and muscle weakness within the first 2 years of life, often from birth.
Congenital Fibre-Type Disproportion (CFTD) is a rare congenital myopathy characterized by a disproportion in muscle fibre size. The key features and considerations for CFTD are summarized below:
Overview Centronuclear myopathies (CNMs): A group of congenital myopathies characterized by centrally placed nuclei in muscle fibers on biopsy. Inheritance : X-linked recessive. Autosomal dominant. Au...
Overview Multiminicore Disease (MmD): A clinically and genetically heterogeneous congenital myopathy characterized by multiple small cores in muscle fibers on biopsy. Main Forms : Rigid Spine Muscular...
Overview Central Core Disease (CCD) : A congenital myopathy characterized by central cores in muscle fibers on biopsy. Associated with mutations in the RYR1 gene , which encodes the skeletal muscle ry...
Overview Nemaline Myopathy (NM): A congenital myopathy characterized by rod-like inclusions (nemaline bodies) in skeletal muscle fibers. Inheritance : Autosomal dominant (AD), autosomal recessive (AR)...
Introduction Congenital Myopathies : Group of inherited muscle disorders presenting with: Hypotonia and weakness from birth. Characteristic histological and/or electron microscopic changes in muscle t...
A dominantly inherited condition characterized by recurrent episodes of brachial plexopathy with pain and weakness.
A dominantly inherited peripheral neuropathy characterized by an abnormal susceptibility to pressure-induced nerve palsies.
Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function.
ADCY5 dyskinesia is a hyperkinetic movement disorder characterized by infantile to late-adolescent onset of chorea, athetosis, dystonia, myoclonus, or a combination of these.
DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations.
EARLY STATUS EPILEPTICUS 0-5 Minutes Assess and support Airway and Breathing as required Apply high flow oxygen, attach monitoring, Finger-prick glucose, obtain IV access 1-5 Minutes If IV access esta...
Flaccid Dysarthria (Lower Motor Neuron Lesion) Clinical Features : Lax open mouth Atonia Weakness Wasting Drooling Feeding difficulties Absent jaw, gag, and cough reflexes Causes : Dystrophia myotonic...
List of various measures and scales for the assessment of hypertonia, ataxia and tics General Hypertonia Assessment Tools Hypertonia Assessment Tool (HAT) : Differentiates between spasticity, dystonia...
Common psychometric measures used in the developmental and neuropsychaological assessment of children based on the domains they assess.
Introduction to Repeat Expansions
Hereditary ataxias are caused by repeat expansions in specific genes. Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis. Key clinical features often include...
Acute Ataxias Vascular Disorders Cerebellar Ischemia: Reduced blood flow to the cerebellum leading to infarction. Cerebellar Hemorrhage: Bleeding within the cerebellum, often associated with hypertens...
ICAs are a group of rare, complex neurodegenerative diseases primarily affecting the cerebellum
Diseases Associated with Chorea Ataxia-Telangiectasia and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immun...
TMS presents a promising, non-invasive intervention for modulating neurophysiological abnormalities associated with ASD.
The Thomas test is a physical exam that assesses the flexibility of the hip flexors and the degree of hip flexion deformity. It was first described in 1875 by Welsh bonesetter Hugh Owen Thomas.
Definition and Overview Papilloedema: Optic disc swelling due to raised intracranial pressure (ICP). Not a disease but a sign of underlying pathology. Bilateral in most cases; unilateral presentation...
Overview Definition : Elevation of intracranial pressure (ICP) without an identifiable cause. Demographics : Primarily affects obese young women of childbearing age. Prevalence : Ranges from 0.5–2 per...
Introduction In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder. Term first used...
Introduction Hopkins Syndrome (HS) represents an exceedingly rare neurological disorder characterized by the abrupt onset of acute flaccid paralysis (AFP) typically subsequent to an exacerbation of as...
Helmet therapy a lso known as cranial orthotic therapy, uses custom-made helmets to gently reshape the skull in infants with positional cranial deformities Mechanism of Action Helmets provide passive,...
Newborn (0–1 Month) Gross Motor: Flexed posture Turns head to side while lying prone Momentary head control in upright position Fine Motor: Hands predominantly fisted Reflexive grasp Social/Emotional:...
Introduction to Circadian Rhythms Definition : Circadian rhythms represent intrinsic, near-24-hour cycles that orchestrate physiological, behavioral, and molecular processes across the human body. The...
FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder.
Trofinetide is a synthetic analogue of glycine-proline-glutamate (GPE), an amino-terminal tripeptide derived from insulin-like growth factor-1 (IGF-1). It is emerging as a promising therapeutic agent...
NGN-401, a novel gene therapy approach, aims to address the underlying genetic cause of RTT by delivering a functional copy of MECP2 using an adeno-associated virus (AAV) vector.
Genetics : RTT is an X-linked neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene. Phenotypic Variability : Includes classical and atypical forms, with overl...
Key points: Prevalence and Onset: Sleep problems affect 70–80% of individuals with RTT, with onset becoming evident between 18 months and 2 years. Sleep disturbances in RTT are significantly more comm...
Proactive monitoring, early intervention, and individualized management to optimize the musculoskeletal health and quality of life for individuals with RTT is important.
Introduction Prevalence: Epilepsy affects 50–70% of individuals with RTT, though earlier studies suggested rates as high as 90%. Variability in study designs and diagnostic criteria contribute to thes...
History of Genetics in Rett Syndrome Early Theories : X-linked dominant, male-lethal (XDML) inheritance model. Differences in severity linked to X-chromosome inactivation (XCI). Key Genetic Discoverie...
The Diagnosis of Rett Syndrome (RTT) Introduction Definition : Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss o...
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder
Introduction GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes encodes the β3-subunit of the GABA-A receptor , a ligand-gated chloride channel. The gene is believed to...
Introduction Definition : Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene . Core Manifestations : Cerebellar ataxia in early toddle...
Lisdexamfetamine Dimesylate Brand Names : Vyvanse, Elvanse. Drug Class : Prodrug stimulant. Mechanism of Action : Lisdexamfetamine is a prodrug of d-amphetamine. Activated enzymatically in the bloodst...
Introduction Definition : USP7-related disorder, also known as Hao-Fountain Syndrome (HFOUS) , results from pathogenic variants or deletions in the USP7 gene . The USP7 gene is located on chromosome 1...
Introduction Rare autosomal recessive lipid storage disease. Abnormal cholestanol accumulation in the nervous system and other organ systems. Clinical manifestations: Brain, tendons, eyes, arteries. S...
Sphingolipidoses Gangliosidoses GM1 gangliosidoses GM2 gangliosidoses: Sandhoff disease Tay–Sachs disease AB variant From globoside Fabry's disease From sphingomyelin Niemann–Pick disease (SMPD1-assoc...
Introduction to Glycosylation Disorders Glycosylation is a critical post-translational modification affecting protein stability, localization, and function. Disorders of glycosylation have been increa...
Introduction Definition : Rare X-linked genetic disorder affecting the skin, hair, teeth, nails, eyes, and CNS. Prevalence : Reported prevalence: ~1.2/100,000 in Europe. Female:Male ratio: 20:1. High...
Overview Fabry disease: X-linked lysosomal storage disorder caused by mutations in the GLA gene . Deficiency of alpha-galactosidase A leads to accumulation of globotriaosylceramide (GL3) in tissues. R...
Overview Most prevalent lysosomal storage disorder. Elevated incidence in Ashkenazi Jews (6% carrier frequency). Autosomal recessive inborn error of metabolism. Caused by mutations in the GBA1 gene ,...
Overview Definition : Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes. Pathophysiology : Lysosome rupture leads to tissu...
Overview Definition : Rare lysosomal storage disorders involving the accumulation of complex carbohydrates or lipids. Shared Features with MPS Disorders : Developmental delay. Organomegaly. Dysostosis...
Overview Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to enzyme deficiencies impairing degradation of glycosaminoglycans (GAGs), also known as mucopolysaccharides. GAGs are complex...
1. Overview of Lysosomal Enzyme Deficiencies Lysosomal enzyme activity can be assessed in: Serum or plasma Leukocytes (white cell pellet) Cultured fibroblasts Neurological disorders associated with ly...
Peroxisomes are spherical 1pm diameter organelles with a multitude of oxidative and other enzymes packed within a single-layered membrane ( http://www.peroxisomedb.org ) global' peroxisomal disorders...
Paroxysmal events are common in the neonate. It is not always easy to tell if these episodes are epileptic seizures because ERG discharges may not always be seen in epileptic seizures at this age. Non...
1. Incidence Challenges in Estimation : Clinical overestimation due to non-seizure abnormal movements. Underestimation due to electrographic seizures without clinical manifestations. Statistics : Term...
Definition Pendular nystagmus is a form of involuntary eye movement characterized by oscillations of equal speed in both directions, resembling a pendulum's motion. It can affect one or both eyes and...
Henri Gastaut was a renowned neurologist who passed away on July 15, 1995, at the age of 80 after a prolonged illness. Born in Monaco on April 5, 1915, Gastaut came from a modest family background and...
Description An X-linked recessive mental retardation syndrome. Characterized by: Dysmorphic features: relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with fron...
MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly conserved across eukaryotes and contains 43 exons. The protein...
Disruption at any of the stages in metabolism could contribute to primary and/or secondary contributions to ASD
Review of acute and preventative pharmacologic and non-pharmacologic treatment of pediatric migraine, including recent or ongoing clinical trials.
Overview: Temporal lobe epilepsy was traditionally considered an acquired condition. Causes include lesions such as: Hippocampal sclerosis Tumours Trauma Vascular malformations Malformations of cortic...
Day 15 Post-Conception (p/c) : Formation of the primitive streak of specialized neuroectoderm on the dorsal surface of the embryo. Hensen’s Node : Development of the neural tube and neural crest. Fig....
Fetal neurology is a specialized branch of medicine that focuses on the study, diagnosis, and management of neurological conditions affecting the developing fetus. This field encompasses the understan...
Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion pater...
Zika virus is a mosquito-borne flavivirus primarily transmitted by Aedes aegypti mosquitoes (Hayes, 2009; CDC, 2016 ) and to a lesser extent by Aedes albopictus mosquitoes.
Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered imp...
The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Cla...
Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive ep...
Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane, nuclear lamina, and outer nuclear membrane. Key components inclu...
Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning. Contributory causes include myotonic dystrophy and some congenit...
References Drug Study Design Evidence level Dose Age(years) Number of patients Responders (%) Active drug Responders (%) Placebo p value Hamalainen et al 1997 Ibuprofen RCT A 10 mg/kg 4–16 88 68 37 Le...
Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-li...
Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive ga...
lamotrigine (LTG)in combination with valproic acid (VPA) may work synergistically to provide superior seizure control than each drug independently VPA inhibits LTG metabolism by UGT1A4 glucuronidation...
Expected changes in plasma concentrations when an AED is added to a pre-existing regimen AED added PB PHT PRM ETS CBZ VPA OXC LTG GBP TPM TGB LEV ZNS VGB FBM PB - PHT ↑↓ NCCP ETS ↓↓ CBZ ↓↓ VPA ↓↓ H-OX...
Introduction Cenobamate is an anticonvulsant medication used primarily for the treatment of partial-onset seizures in adults. It was first approved by the U.S. Food and Drug Administration (FDA) in No...
Activity Score Infant (1-12m) Score Child (1y+) Eye opening 4 spontaneously 4 spontaneously 3 to speech 3 to command 2 to pain 2 to pain 1 no response 1 no response Best verbal response 5 coos, babble...
Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condition which follows a prolonged refractory status epilepticus (SE) triggered by fever of unknown c...
Wilder Graves Penfield (January 26, 1891 – April 5, 1976) was a pioneering Canadian neurosurgeon known for his groundbreaking work in brain surgery and for developing the "Montreal Procedure," which i...
The term “bilateral synchrony” was introduced by Wilder Penfield. According to Penfield and Jasper “An epileptogenic lesion of the mesial or inferior aspect of a frontal lobe, although it is one-sided...
Reported reference values for CSF total protein (g/L) in infants, children, and adults. Age Mean ± SD[1](range) Range[2]...
Perampanel is a first-in-class, noncompetitive, α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) receptor antagonist recently approved for the adjunctive treatment of partial seizures in pati...
Urine Biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later pyridoxine-responsive epileps...
Definition : Whole Genome Sequencing (WGS) is a comprehensive method for analyzing the entire DNA sequence of an organism’s genome at a single time. Process : Sample Collection : DNA is extracted from...
Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation : Resembles cerebral palsy, oculogyric crises, tremulousness, b...
Comparitive genomic hybridization (CGH) or Chromosomal microarray analysis(CMA) is a modern cytogenetic technique for analyzing variations in DNA copy-number. Alteration in DNA copy number is one of t...
Introduction Revolutionized Treatment : Introduced in the early 1960s. Significant impact on the treatment of generalized epilepsies. Chemical Composition : Valproic acid: 2-propyl pentanoic acid, 2-p...
Introduction Forms of Neurofibromatosis : Neurofibromatosis Type 1 (NF1) : Previously known as von Recklinghausen disease, the most common type. NF2-related Schwannomatosis (NF2) : Formerly neurofibro...
Plagiocephaly in Infants Overview Definition: Plagiocephaly, often referred to as "flat head syndrome," is characterized by an asymmetrical cranial deformation. It includes positional (deformational)...
Overview Definition: Illness Anxiety Disorder (IAD), formerly known as hypochondriasis, is characterized by excessive worry about having a serious illness despite having little or no medical evidence...
Overview Generic Name: Fenfluramine Brand Names: Fintepla (current), Pondimin (previously) Drug Class: Serotonergic agent, anorectic (appetite suppressant) Chemical Information Chemical Formula: C12H1...
These genes are implicated in various neurotransmitter-related disorders, affecting the synthesis, release, transport, and degradation of neurotransmitters. Serotonin Pathway Disorders TPH2 (Tryptopha...
Overview Generic Name: Levetiracetam Brand Names: Keppra, Spritam, Elepsia, Roweepra Drug Class: Antiepileptic drug (AED) Chemical Information Chemical Formula: C8H14N2O2 Molecular Weight: 170.21 g/mo...
Ion Channel Genes SCN1A Dravet syndrome Generalized epilepsy with febrile seizures plus (GEFS+) SCN2A Benign familial neonatal-infantile seizures (BFNIS) Epileptic encephalopathy SCN8A Epileptic encep...
Overview Spectrum of Seizure Disorders Varying severity Diagnosed in families with: Febrile seizures (triggered by high fever) Recurrent seizures (epilepsy) of other types, including afebrile seizures...
Epidemiology Global Reports : BFIE cases have been reported worldwide. Prevalence and Incidence : Remain unknown. Clinical Description Age of Onset : Seizures usually occur between 3 to 8 months of li...
PRRT2 Gene Located on chromosome 16p11.2. Consists of four exons. Encodes a protein of 340 amino acids: proline-rich transmembrane protein 2. PRRT2 protein helps regulate signaling in the brain. Compo...
Historical Background The first known description of paroxysmal kinesigenic dyskinesias (PKD) was by Shuzo Kure (1892) detailing a Japanese man with PKD. Initial reports often regarded PKD as a form o...
Etymology and Definition The name "torticollis" comes from the Latin words "tortus" (twisted) and "collum" (neck). Torticollis typically involves the head being tilted to one side and rotated so that...
Terminology The Infantile Spasms Syndrome (ISs) belongs to the group of “early epileptic encephalopathies” (EEE), characterized by severe, drug-resistant epileptic disorders, with onset in early life,...
Overview West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen. Clinical...
Overview Early myoclonic encephalopathy is a syndrome characterized by: Frequent intractable seizures Severe early encephalopathy Limited development and reduced life expectancy Frequent myoclonic sei...
Benign familial neonatal epilepsy is a rare autosomal dominant epileptic syndrome characterised by frequent brief seizures within the first days of life. Clinical features Seizures mainly occur in ful...
Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myocl...
Overview Considered an 'epileptic encephalopathy Characterized by onset of refractory focal seizures in the first year of life. Associated with severe encephalopathy. Focal seizures arise independentl...
Overview Oligoclonal bands (OCBs) are bands of immunoglobulins that are seen when a patient's blood serum, or cerebrospinal fluid (CSF) is analyzed. The presence of two or more bands of immunoglobulin...
Signs & Symptoms Early Signs : Developmental delay Global failure to thrive Microcephaly Progression : Rigidity and spasticity Seizures and epilepsy (various types) Cerebral hypomyelination (visible o...
Overview Definition : Disorder characterized by multiple motor and vocal tics. Prevalence : Overall prevalence of 1% in children aged 5–18 years. Prevalence varies from 0.4–3.8% depending on country a...
Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deteriora...
Introduction Progressive Myoclonus Epilepsy (PME) with onset between late childhood and late adolescence includes several conditions: Neuronal ceroid lipofuscinosis Type I sialidosis Myoclonic epileps...
Overview Kufor-Rakeb Syndrome (KRS), also known as PARK9, is a rare neurodegenerative disorder caused by mutations in the ATP13A2 gene. It was first reported by Nisipeanu et al. in 1994. Clinical Feat...
Indicative sensory conduction findings according to age Median nerve Sural nerve Age ( n ) Conduction velocity (m/s) Amplitude (μV) Conduction velocity (m/s) Amplitude (μV) 7 dayI mth (20) 22.31 (2.16...
Early Life and Education Dr. William G. Lennox, born on July 15, 1884, in Boston, Massachusetts, was a pioneering neurologist known for his groundbreaking work in epilepsy research. Lennox pursued his...
Lennox-Gastaut Syndrome (LGS) was first characterized by Dr. William G. Lennox as a form of epilepsy known as a "Petit mal variant." In 1966, the Marseille School in France provided a more detailed de...
Overview Juvenile myoclonic epilepsy (JME) is an idiopathic, hereditary, and generalized form of epilepsy, accounting for approximately 5%-10% of all epilepsy cases. JME typically manifests between th...
Introduction Beta-propeller protein-associated neurodegeneration (BPAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA). It was first described by Haack et al. in 2012, initial...
Overview PLA2G6-associated neurodegeneration (PLAN), also referred to as NAD or PARK14, is caused by mutations in the gene encoding calcium-independent phospholipase A2 (PLA2G6) (Figs 19.6a and 19.6b)...
Overview Pantothenate kinase-associated neurodegeneration (PKAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA), with an estimated prevalence of 1:1,000,000 (Hayflick et al.,...
Overview Insomnia, or difficulty in sleeping, is a common issue among young children, with approximately 30% experiencing periods of sleep disturbances before the age of five. This often manifests as...
Narcolepsy is characterized by episodes of irrepressible sleep occurring during the daytime, often during monotonous activities. These episodes typically last 10–20 minutes and occur against a backgro...
Overview Kleine–Levin syndrome (KLS) was first described in the 1930s, but it has only recently gained attention in pediatrics and child psychiatry. It predominantly affects adolescent boys, though th...
Ice pick headaches are a benign primary headache disorder characterized by sudden, sharp, ice pick-like pains. These pains typically last for seconds to minutes and can occur at different locations on...
Trigeminal autonomic cephalalgias (TACs) are a group of headache disorders characterized by repetitive, brief episodes of severe unilateral pain accompanied by ipsilateral autonomic symptoms such as r...
Tension-type headache is one of the most common forms of headache among children and adolescents, alongside migraine. The prevalence of tension-type headache in this demographic is variable, with stud...
Definition and Prevalence Chronic daily headache is diagnosed based on the presence of headaches occurring for 15 or more days per month, over a period of three consecutive months, without any underly...
Overview Migraines are severe, often bilateral, throbbing headaches commonly located in the temples or frontal regions of the head. They affect different age groups with varying prevalence rates: 2-5%...
Methylphenidate (MPH) is available in 2 different isomer formulations. It is essential to know which formulation you are dealing with when converting from one stimulant to another. Those conversions a...
Mitochondrial disorders - investigations Definitive investigations have become more complex and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests...
Night terrors, also known as sleep terrors, are an early childhood parasomnia characterized by screams or cries, behavioral manifestations of extreme fear, difficulty waking and inconsolability upon a...
Self Injurious Behaviour (SIB) SIB refers to a class of behaviors which the individual inflicts upon his/herself that have the potential to result in physical injury, more specifically tissue damage....
PNPO deficiency ( OMIM 6032870 ) is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early in...
Spikes and Sharp Waves Spikes, sharp waves, spike & waves are common EEG wave forms. Spike wave A transient, clearly distinguished from background activity, with pointed peak at a conventional time sc...
(formerly called childhood epilepsy with centrotemporal spikes, benign epilepsy of childhood with centrotemporal spikes or Benign Rolandic Epilepsy) Self-Limited Epilepsy with Centrotemporal Spikes (S...
Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform dis...
Absence seizures are short seizures with behavioural arrest and generalised 3-Hertz spike-and-wave discharges on EEG. Absence seizures occur in multiple genetic generalized epilepsies, including Child...
Introduction Paediatric EEG Normal Awake 3-12 months 14 months-2years 3-4 years 5-10 years 11-16 years Hyperventilation Normal Drowsiness, Sleep, Arousal Drowsy patterns Burst Drowsy Patterns V Waves...
In general, there are 4 MR sequences that will tell you 99% of what you need to know: T2 FLAIR T1 post-contrast DWI GRE/SWI/SWAN/T2* T2 FLAIR “What is grossly abnormal?” anything abnormal = bright on...
Choice Antiepileptic Drug (AED)medication in children Seizure type/syndrome First Line Second Line Drugs to avoid Focal seizures CBZ,LTG,OXC,TPM,VPA CLB,GBP,LEV,PHT,TGB,ZON,PGN Generalised Seizures Ab...
AED dosing and target serum concentration
DrugInitial or Starting DoseUsual Range or Maximum DoseComments Target Serum Concentration Range
Barbiturates   
Phenobarbital1-3 mg/kg/d (10-20 mg/kg LD)180-300 mg10-40 μg/mL (43-172 μmol/L)
Primidone100-125 mg/d750-2000 mg5-10 μg/mL (23-46 μmol/L)
Benzodiazepines   
Clobazam≤30 kg 5 mg/d; >30 kg 10 mg/d≤30 kg up to 20 mg; > 30 kg up to 40 mg0.03-0.3 ng/mL (0.1-1.0 nmol/L)
Clonazepam1.5 mg/d 20 mg 20-70 ng/mL (0.06-0.22 μmol/L)
DiazepamPO: 4-40 mgPO: 4-40 mg100-1000 ng/mL (0.4-3.5 μmol/L)
IV: 5-10 mgIV: 5-30 mg
LorazepamPO: 2-6 mgPO: 10 mg10-30 ng/mL (31-93 nmol/L)
IV: 0.05 mg/kgIV: 0.05 mg/kg
IM: 0.05 mg/kg
Hydantoin   
PhenytoinPO: 3-5 mg/kg (200-400 mg)PO: 500-600 mgTotal: 10-20 μg/mL (40-79 μmol/L)
(15-20mg/kg LD)Unbound: 0.5-3 μg/mL (2-12 μmol/L)
Succinimide   
Ethosuximide500 mg/d500-2000 mg40-100 μg/mL (282-708 μmol/L)
Other   
Carbamazepine400 mg/d400-2400 mg4-12 μg/mL (17-51 μmol/L)
Ezoqabine300 mg/d1200 mgNot defined
Felbamate1200 mg/d3600 mg30-60 μg/mL (126-252 μmol/L)
Gabapentin300-900 mg/d4800 mg2-20 μg/mL (12-117 μmol/L)
Lacosamide100 mg/d400 mgNot defined
Lamotrigine25 mg every other day if on VPA; 25-50 mg/d if not on VPA100-150 mg if on VPA; 300-500 mg if not on VPA4-20 μg/mL (16-78 μmol/L)
Levetiracetam500-1000 mg/d3000-4000 mg12-46 μg/mL (70-270 μmol/L)
Oxcarbazepine300-600 mg/d2400-3000 mg3-35 μg/mL (MHD) (12-139 μmol/L)
Pregabalin150 mg/d600 mgNot defined
Rufinamide400-800 mg/d3200 mgNot defined
Tiagabine4-8 mg/d80 mg0.02-0.2 μg/mL (0.05-0.5 μmol/L)
Topiramate25-50 mg/d200-1000 mg5-20 mcg/mL (15-59 μmol/L)
Valproic acid15 mg/kg (500-1000 mg)60 mg/kg (3000-5000 mg)50-100 μg/mL (347-693 μmol/L)
Vigabatrin1000 mg/d3000 mg0.8-36 μg/mL (6-279 μmol/L)
Zonisamide100-200 mg/d600 mg10-40 μg/mL (47-188 μmol/L)
Abbreviations: IM, intramuscular; LD, loading does; MHD, 10-monohydroxy-derivative; PO, orally; VPA, valproic acid. Data from Patsalos et al, Halford...
Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myocl...
Ohtahara syndrome is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic enceph...
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy characterized by the inappropriate induction of a type I interferon-mediated immune response and usually results in severe cognitive and ph...
Landau was a professor of neurology at Washington University School of Medicine in St. Louis from 1954 to 2012 and served as head of the Department of Neurology from 1970 to 1991. He was the longest-s...
Landau-Kleffner syndrome (LKS), or acquired epileptiform aphasia, is an epilepsy syndrome involving progressive neuropsychological impairment related to the appearance of paroxysmal electroencephalogr...
Urine biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic se...
Lysosomal enzyme deficiencies may be sought in serum or plasma, in leukocytes (white cell pellet) or in cultured fibroblasts. Although it is evident that there is great variation in the severity of th...
Blood Biochemistry Test Indications Precautions Interpretation α-AASA Neonatal epileptic seizures (usually with burst-sup...
Mitochondrial disorders are caused by mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that affect mitochondrial function. These conditions involve impaired energy production due to defect...
Muscle Conditions with Myotonia or Myotonia-like Symptoms Clinical and Electrical Myotonia Conditions where both clinical symptoms of myotonia (delayed muscle relaxation after contraction) and electri...
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Vitamin-responsive conditions in child neurology, categorized by the vitamin involved.
List of autoimmune neurological disorders in children, categorized by their primary clinical or pathophysiological presentation
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Structured overview of neuromuscular disorders, spanning genetic, acquired, inflammatory, metabolic, and structural etiologies.
The ILAE Classification of the Epilepsies was updated in 2017 [1] [2] to reflect the advances made in recent years in the understanding of the epilepsies and their pathophysiologies since the classifi...
Dr. Mink is a world-renowned child neurologist whose career has profoundly influenced our understanding and management of pediatric movement disorders. His clinical and research focus on movement diso...
Born in Chicago as the youngest of four children, Ken was influenced by his older sister who became a nurse. He admits that his interest in medicine was sparked by her apparent enjoyment of her work....
Multiple authors
Dr. Biju Abdul Hameed obtained his medical degree from India in 1994 and went on to complete his further training at Bristol Royal Hospital for Children in the United Kingdom. There, Dr. Hameed worked...
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