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Van Buchem illness: First case report in Taiwan.
Drugs (Baltimore). 2017 Dec;96(50):e9209
Authors: Hsu SF, Lin CC
Summary
RATIONALE: Van Buchem illness (VBD) is a really uncommon autosomal recessive illness. Based on our overview of the related literature, this text is the primary case report of VBD in Taiwan.
PATIENT CONCERNS: A 54-year-old girl developed a protruding chin, frontal bossing, and macrocephaly on the age of 40 years. She famous the onset of progressive bilateral visible and listening to impairment on the age of 40 and 45 years, respectively. Intermittent complications, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and again ache had been additionally noticed since age 40.
DIAGNOSES: She acquired a analysis of VBD primarily based on the phenotypic abnormalities of the cranium and mandible, facial nerve involvement, radiological photographs of the skeleton, and her household historical past.
INTERVENTIONS: She acquired symptomatic therapy and surgical decompression for spinal stenosis.
OUTCOMES: Her medical situation didn’t enhance satisfactorily.
LESSONS: We hope to advertise clinician consciousness of this very uncommon illness and its signs and indicators. A complete understanding of VBD would possibly result in the event of a healing remedy sooner or later.
PMID: 29390344 [PubMed – in process]