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ARTICLE TYPE : CASE REPORT

Published on :   22 Jan 2026, Volume - 2
Journal Title :   WebLog Journal of Neurology | WebLog J Neurol
Source URL:   weblog iconhttps://weblogoa.com/articles/wjn.2026.a2202
Permanent Identifier (DOI) :  doi iconhttps://doi.org/10.5281/zenodo.18447808

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 DR 1
Mehta AR 2
Midha PK 3
Govani ND 1
Panchasara NG 1
Patel RR 1
Patel RV 1 *
1Department of Pediatrics and Pediatric Surgery, Postgraduate Institute of Child Health & Research and KT Children Govt. University Teaching Hospital, Rajkot 360001, Gujarat, India
2Formerly Head, Department of Surgery at Tata Memorial Hospital, Mumbai, India
3J. Watumull Global Hospital & Research Centre, Delwara Road, Mount Abu, Rajasthan 307501, India Affiliated to Medical Faculty of God Fatherly Spiritual University, Mount Abu, Rajasthan, India

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.

Keywords: Intestinal Hypoganglionosis; Enteric Neuropathy; Familial Gastrointestinal Dysmotility; Subacute Combined Degeneration; Vitamin B12 Deficiency Neuropathy; Severe Anemia; Maternal Malabsorption; Infantile Intussusception; Ileocolic Intussusception; Neuro‑Gastrointestinal Disorders; Hereditary Enteric Nervous System Disorders; Two‑Generation Case Series; First Reported Association

Citation

Govani DR, Mehta AR, Midha PK, Govani ND, Panchasara NG, Patel RR, et al. 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. WebLog J Neurol. wjn.2026.a2202. https://doi.org/10.5281/zenodo.18447808
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