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Published on: September 19, 2019
Mabry Syndrome in a Child of South Asian Descent
Amir Humza Sohail1, Muhammad Younus Khan Durrani2, Shahnaz Hamid Ibrahim3
1Department of Surgery, Howard University, Washington, USA.
Insights
Mabry syndrome, a rare genetic disorder, presents with seizures, hyperphosphatasia, and developmental delays. This report details a unique case in a South Asian infant, highlighting the condition's varied manifestations.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Mabry syndrome is a rare autosomal recessive disorder characterized by the triad of seizures, hyperphosphatasia, and mental disability.
- It typically manifests within the first year of life and is associated with various other physical anomalies.
- Over 20 cases have been documented globally.
Observation:
- This report describes a six-month-old South Asian child diagnosed with Mabry syndrome.
- The patient presented with decreased neck holding, hypotonia, delayed motor milestones, a high-arched palate, and hyperplastic malar eminences.
- Notably, constipation manifested late, at 19 months of age.
Findings:
- This case represents the first documented instance of Mabry syndrome in an individual of South Asian descent.
- The presentation included typical Mabry syndrome features alongside a delayed onset of gastrointestinal symptoms.
Implications:
- This case expands the known phenotypic spectrum and geographic distribution of Mabry syndrome.
- Further research into genetic variations and clinical presentations across diverse populations is warranted.
Abstract:
Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. It usually manifests in first year of life and has an autosomal recessive mode of inheritance. Besides the usual triad, other manifestations of Mabry syndrome include hypoplasia of distal phalanges, brachytelencepahly, gastrointestinal malformations and constipation, hypertelorism, short nose with a broad nasal bridge and dip, and thin upper lip with down turned corners of the mouth. More than 20 cases of Mabry syndrome have been reported in medical literature. Herein, we report the case of a six-month child with Mabry syndrome that presented with decreased neck holding, hypotonia and delayed motor milestones. The child also had a high-arched palate and hyperplastic malar eminences. Constipation was present but had a delayed onset, starting at 19 months of age. This is the first case of Mabry syndrome occurring in a child of South Asian descent.
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