IllnessMigraine, hemiplegic; differential diagnosis

NGS +

Familial hemiplegic migraine (FHM) usually causes intense pain in an area of the head, often accompanied by nausea, vomiting and extreme sensitivity to light as well as sound. The recurring headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress or even minimal head trauma. In FHM, the headache is preceded by an aura with scotomas, flashes, double vision and weakness, often accompanied by hemiparesis, speech disturbances, confusion and drowsiness. Severe episodes are accompanied by fever, seizures, persistent weakness, coma and are rarely lethal. Most patients recover fully between episodes, but memory and attention deficits may persist. Some 20% of patients develop mild, permanent ataxia and nystagmus. The differential diagnosis should include MELAS, MERFF, CADASIL (NOTCH1 gene), and hereditary hemorrhagic telangiectasias (ENG, ACVRL1, SMAD4 genes). FHM is usually inherited in an autosomal dominant manner. The DNA diagnostic yield is low, approximately 30%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1388/

• Alias: Familial or sporadic hemiplegic migraine
• Alias: Migraine, familial hemiplegic
• Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
• Allelic: CAPOS syndrome (ATP1A3)
• Allelic: Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Allelic: Dystonia-12 (ATP1A3)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
• Allelic: Epileptic encephalopathy, early infantile, 42 (CACNA1A)
• Allelic: Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Allelic: Episodic ataxia, type 2 (CACNA1A)
• Allelic: Episodic kinesigenic dyskinesia 1 (PRRT2)
• Allelic: Febrile seizures, familial, 3A (SCN1A)
• Allelic: Migraine, familial basilar (ATP1A2)
• Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Allelic: Renal tubular acidosis, proximal, with ocular abnormalities (SLC1A4)
• Allelic: Seizures, benign familial infantile, 2 (PRRT2)
• Allelic: Spinocerebellar ataxia 6 (CACNA1A)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Episodic ataxia, type 6 (SLC1A3)
• Familial hemiplegic migraine [MONDO:0000700, panelapp red] (ATP1A4)
• Migraine, familial hemiplegic, 1 (CANA1A)
• Migraine, familial hemiplegic, 2 (ATP1A2)
• Migraine, familial hemiplegic, 3 (SCN1A)
• Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
• Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)