Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene. In this work, a case of a 13 year-old Indian female presenting with multi-organ involvement (Neurological: episodic seizures, behavioral abnormalities, acute onset progressive flaccid-motor quadriparesis, multiple cranial nerve palsies, respiratory paralysis, dysautonomia, and posterior reversible encephalopathy syndrome; Gastrointestinal: recurrent attacks of abdominal pain, nausea/vomiting, isolated transaminitis, and acute pancreatitis; and Renal: metabolic alkalosis and refractory dyselectrolytemia) which resulted in significant diagnostic dilemmas. She was eventually diagnosed as a case of acute intermittent porphyria harboring a novel hydroxymethylbilane synthase gene mutation (p.Arg173Trp).
Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune astrocytopathy against aquaporin-4 (AQP4) water channels.Area postrema syndrome (APS) is an NMOSD variant characterized by recurrent intractable hiccups and vomiting. 1,2 Acute brainstem syndrome is another recently described variant that presents with disturbances of arousal, cranial nerve deficits, and neuroophthalmological syndromes. 1,2 Involvement of the periaqueductal region, mammillary bodies and dorsomedial thalamus are classically described in Wernicke's encephalopathy (WE). [3][4][5] Nonalcoholic associations of WE may be
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