Familial Hypoganglionosis Presenting as Maternal Chronic Intestinal Dysmotility with Co‑Occurring Subacute Combined Degeneration and Severe Anemia, and Acute Intussusception in Her Infant Daughter: A Two‑Generation Case Series
This research aims to explore the presentation of familial hypoganglionosis in a mother and her infant daughter, focusing on related gastrointestinal symptoms and implications.
Case analysis of a mother-daughter pair
Full-thickness biopsy to diagnose hypoganglionosis
MRI used to identify subacute combined degeneration
Clinical observation of gastrointestinal symptoms and events
Mother experienced lifelong intestinal issues, anemia, and hypoganglionosis confirmed by biopsy
MRI revealed subacute combined degeneration in the mother
Infant diagnosed with acute ileocolic intussusception at 7 months of age
Both cases presented without known syndromic associations
Abstract
Abstract We describe a mother–infant dyad. The mother, a 16‑year‑old teenager, presented with a background of lifelong chronic constipation, recurrent abdominal discomforts, pain and distension, and malabsorption. The patient presented suddenly with progressive gait disturbance, and profound anemia. She was diagnosed with hypoganglionosis on full‑thickness biopsy and SCD on MRI. Her infant daughter presented at 7 months with acute ileocolic intussusception, requiring radiological reduction. Both cases occurred in the absence of known syndromic associations.
Familial Hypoganglionosis Presenting as Maternal Chronic Intestinal Dysmotility with Co‑Occurring Subacute Combined Degeneration and Severe Anemia, and Acute Intussusception in Her Infant Daughter: A Two‑Generation Case Series | Synapse
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