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TL;DR
Diagnostic challenges included an initially inconclusive workup, with the definitive diagnosis of intermediate-type maple syrup urine disease (MSUD) made later through exome sequencing revealing a homozygous pathogenic variant.
Cureus · 5 authors, 4 centres
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Diagnostic challenges included an initially inconclusive workup, with the definitive diagnosis of intermediate-type maple syrup urine disease (MSUD) made later through exome sequencing revealing a homozygous pathogenic variant.
Diagnostic challenges included an initially inconclusive workup, with the definitive diagnosis of intermediate-type maple syrup urine disease (MSUD) made later through exome sequencing revealing a homozygous pathogenic variant. Treatment involved management of increased intracranial pressure, including surgical craniectomy, and empirical therapies like corticosteroids and thiamine supplementation. The patient experienced a prolonged, complicated hospitalization with significant morbidity; her 18-year-old sister, who had concurrent similar symptoms, died. This case highlights that non-classical forms of MSUD can manifest late in life, triggered by catabolic stress like infection, and underscores the importance of considering metabolic disorders in the differential diagnosis of acute encephalopathy to avoid delays in treatment.