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.

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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
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article

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

Govani Nd, Govani DR, Patel RR, Panchasara NG et al.
Zenodo (CERN European Organization for Nuclear Research)
Congenital gastrointestinal and neural anomalies
article

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

Govani Nd, Govani DR, Patel RR, Panchasara NG, Midha PK, Patel RV, Mehta AR
article en

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.

Zenodo (CERN European Organization for Nuclear Research)
Tata Memorial Hospital (IN), Mount Sinai Hospital (US), Institute of Child Health (IN)
Openalex Percentile: Top 23%
Congenital gastrointestinal and neural anomalies
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