Assuming differential is required, the following 70 results were found.
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Incontinentia Pigmentihttps://cnke.org/articles/475
neonatal complications. Fertility is unaffected, though there is an increased risk of miscarriages due to male lethality Differential Diagnosis Skin Manifestations by Stage: Stage I – Bullous Stage: Differential: Congenital herpes simplex, varicella,...
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Ataxias: Differential Diagnosishttps://cnke.org/articles/185
Acute Ataxias Vascular Disorders Cerebellar Ischemia: Reduced blood flow to the cerebellum leading to infarction. Cerebellar Hemorrhage: Bleeding within the cerebellum, often associated with hypertension or anticoagulation therapy. Medications and...
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Familial (Autosomal Dominant) Focal Epilepsieshttps://cnke.org/articles/357
or sparse, unilateral sharp and slow wave complexes (22%). Sleep may occasionally activate epileptiform abnormalities. Differential Diagnosis: Differentiating from normal phenomena in cases with mild and infrequent seizures of predominantly déjà vu can...
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Congenital Myopathieshttps://cnke.org/articles/218
or shows myopathic pattern. Differentiation from Other Disorders No histopathological evidence of muscular dystrophy. Differential diagnosis includes: Prader-Willi syndrome. Neurometabolic disorders. Non-neuromuscular causes of neonatal hypotonia....
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Bilateral Synchronyhttps://cnke.org/articles/295
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, may produce bifrontal synchronous discharges”. The...
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Ohtahara syndromehttps://cnke.org/articles/177
to severe focal epilepsy High incidence of mortality & morbidity with permanent cognitive and neurologic deficits Differential Diagnosis early myoclonic encephalopathy. There is considerable clinical overlap between the two conditions and some authors...
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Early myoclonic encephalopathyhttps://cnke.org/articles/267
or epilepsy is usually absent. A positive family history should prompt a search for a genetic or metabolic etiology. Differential Diagnosis Ohtahara syndrome Classic...
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Ion channel disordershttps://cnke.org/articles/231
chloride after exercise may induce an attack. Genetic testing: Mutations in SCN4A (present in 60–70% of cases). Differential Diagnosis: Adrenal insufficiency. Medications: Spironolactone, ACE inhibitors. Rhabdomyolysis. Andersen–Tawil Syndrome Key...
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Helmet therapy also 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, dynamic pressure, redirecting cranial growth toward...
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Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214
Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...
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Spikes and Sharp Waveshttps://cnke.org/articles/30
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 scale and duration from 20 to less than 70 ms....
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Neuroleptic Malignant Syndrome (NMS)https://cnke.org/articles/239
which may lead to renal failure. Time Course: Symptoms develop over hours to days, slower than Malignant Hyperthermia. Differential Diagnosis: Serotonin Syndrome: Similar features caused by excessive serotonin activity, typically due to selective...
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Pyridoxal 5 Phosphate Dependent Epilepsyhttps://cnke.org/articles/31
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 infancy, that can be treated with pyridoxal 5’-phosphate...
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Kleine–Levin syndromehttps://cnke.org/articles/43
Behavioral problems associated with KLS are highly variable and often linked to somnolence and clouded consciousness. Differential Diagnosis Before a correct diagnosis of KLS is established, various psychiatric diagnoses might be considered, including...
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Gilles De La Tourette Syndromehttps://cnke.org/articles/260
30% of patients. ADHD common, along with various behavioral and psychiatric problems, causing significant distress. Differential Diagnosis Conditions to Differentiate From: Polymyoclonus and chorea, especially Sydenham chorea. Stereotypies and...
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Central Core Disease (CCD)https://cnke.org/articles/220
Muscle biopsy showing central cores. Genetic Testing: Next-generation sequencing to identify RYR1 mutations. Differential Diagnosis: Other RYR1-related myopathies: Multiminicore disease. Non-RYR1-related congenital myopathies: Nemaline myopathy....
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Dravet syndromehttps://cnke.org/articles/180
clinically meaningful reductions in seizure frequency in patients with treatment-resistant DS [Devinsky et al., 2018]. Differential Diagnoses Febrile Seizures (FS) At the very onset FS is the main differential In an infant under 1 year, with a family...
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Night Terrors https://cnke.org/articles/230
is ongoing research on using scheduled awakenings and vibration machines during the night to enhance quality of life Differential Diagnosis The differential diagnosis for night terrors can include: Seizures. Patients with nocturnal frontal lobe epilepsy...
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Migrainehttps://cnke.org/articles/37
forms may present with coma, fever, and meningismus. Treatment may include acetazolamide or calcium channel blockers. Differential diagnosis should consider structural lesions, vasculitis, cerebral hemorrhage, brain tumor, mitochondrial myopathy,...
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Lennox-Gastaut Syndrome (LGS)https://cnke.org/articles/50
dysfunction underlying the syndrome and are essential for diagnosing and understanding the pathophysiology of LGS. Differential Diagnosis The diagnosis of Lennox-Gastaut Syndrome (LGS) is based on a combination of electroclinical criteria, including the...
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