ArticleOxford medical case reports2025
Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
This case report presents a 6-month-old male infant with a diagnosis of infantile systemic hyalinosis (ISH) and describes the diagnostic difficulties and findings of clinical examinations, laboratory analyses, and imaging studies. A 6-month-old male infant was admitted with abdominal distension, persistent diarrhea, and joint tenderness. His history included profuse watery diarrhea and a hospitalization for hypoalbuminemia. Upon arrival, he presented with multiple episodes of non-bloody diarrhea, oxygen desaturation, and signs of failure to thrive. Physical examination revealed joint swelling, spasticity, failure to thrive, short stature and developmental delays. Imaging studies including abdominal and pelvic ultrasound showed free fluid, intestinal distension, and renal microlithiasis. Imaging results included a chest X-ray showing mild interstitial markings and a brain MRI showing dilatation of subarachnoid space. Laboratory studies demonstrated an elevated white blood cell count (13 300 cells/mm
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