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
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.
Authors
- Govani Nd
- Govani DR
- Patel RR
- Panchasara NG
- Midha PK
- Patel RV
- Mehta AR
Institutions
- Tata Memorial Hospital (IN)
- Mount Sinai Hospital (US)
- Institute of Child Health (IN)
Publication Details
- Journal
- Zenodo (CERN European Organization for Nuclear Research)
- Published
- 2025-12-31
- DOI
- https://doi.org/10.5281/zenodo.18447808
- Primary Topic
- Congenital gastrointestinal and neural anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00