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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

Year: 2025

Type: article

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.

DOI: 10.5281/zenodo.18447807

Authors: Govani DR, Mehta AR, Midha PK, Govani ND, Panchasara NG, Patel RR, Patel RV

Institution: Tata Memorial Hospital

Language: English

Topic: Congenital gastrointestinal and neural anomalies

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

OpenAlex ID: W7127083737

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