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Washington University Experience | METABOLIC | Menkes disease | 4A0 Case 4 History
Case 4 History ---- The patient was a 6-week-old male infant born at 33w2d (birth weight 1810 grams, between 10-25th percentile) with a known family history of Menkes disease (his mother was a carrier and an older sibling died at 8 months of age with a subsequent diagnosis of Menkes disease). Genetic testing confirmed the diagnosis of Menkes in the current case (hemizygous pathogenic variant of ATP7A gene confirmed by whole genome sequencing). His clinical course involved a bleeding vessel, clamped during life, resulting in a retroperitoneal hematoma complicated by abdominal compartment syndrome and clinical hemorrhagic shock. The large retroperitoneal hematoma, confirmed by emergent laparotomy and imaging, explained the profound hemoglobin drop and subsequent circulatory collapse. Although the precise site of hemorrhage was not identified by the autopsy, the general autopsy did identify features that suggest an intra-abdominal vascular malformation or aneurysmal dilation. In the setting of Menkes disease vascular fragility due to defective collagen cross-linking is a known complication. Patients with Menkes disease are predisposed to spontaneous, vascular rupture and hemorrhage. Additional autopsy findings, including ecchymoses, pleural effusions with serosanguineous fluid, hemorrhage involving the adrenal gland and testis, and diffuse bowel congestion, further support the systemic hemorrhagic process and hypoperfusion.
