An unusual presentation in a patient with metachromatic leukodystrophy
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Published on: October 21, 2014
A D Malde1, L D Naik, S H Pantvaidya
1Department of Anaesthesia, L.T.M. Medical College, Sion, Bombay, India.
Insights
A child with metachromatic leukodystrophy experienced respiratory arrest. Gastro-oesophageal reflux, a complication of this disorder, was identified as the cause.
Area of Science:
- Pediatric Neurology
- Gastroenterology
- Genetics
Background:
- Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the nervous system.
- MLD can present with various complications, including neurological and gastrointestinal issues.
- Cholecystectomy was performed in a 2-year-old child prior to the index event.
Observation:
- The child developed bilateral bronchopneumonia and subsequently experienced sudden respiratory arrest.
- Pathological examination of a gallbladder mass revealed features consistent with MLD.
- Gastro-oesophageal reflux was suspected as the cause of respiratory arrest.
Findings:
- Barium swallow examination confirmed the presence of gastro-oesophageal reflux.
- Gastro-oesophageal reflux is a known association with metachromatic leukodystrophy.
- The child required ventilatory support due to respiratory arrest.
Implications:
- This case highlights the importance of considering gastro-oesophageal reflux in patients with MLD presenting with respiratory compromise.
- Early recognition and management of reflux may prevent severe respiratory events in children with MLD.
- Further research into the link between MLD and gastrointestinal complications is warranted.
Abstract:
A 2-year-old child was admitted with bilateral bronchopneumonia. During convalescence he sustained sudden respiratory arrest for which he required ventilatory support. He had undergone cholecystectomy 1 month prior to the above episode. The pathological examination of the gall bladder mass had revealed the features of metachromatic leukodystrophy. Gastro-oesophageal reflux, which is associated with this neurological disorder, was suspected to be the cause of this sudden respiratory arrest and its presence was confirmed by barium swallow examination.
