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Updated: Aug 18, 2026
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
Macrothrombocytopenia and progressive deafness: a new genetic syndrome
H A Brodie1, R A Chole, G C Griffin
1Department of Otolaryngology-Head and Neck Surgery, University of California, Davis, Medical Center, Sacramento 95817.
Abstract:
We report a kindred with hereditary macrothrombocytopenia and progressive sensorineural hearing loss. Although the occurrence of hereditary sensorineural hearing loss associated with macrothrombocytopenia has been reported in a small number of families, varying degrees of renal pathology have always been present. In contrast to the previously reported syndromes involving a giant-platelet disorder and deafness, none of the family members in this report have had any evidence of renal dysfunction. The disorder was inherited in a linear pattern from great-grandmother to grandmother to mother to daughter. The clinical manifestations include hearing impairment that begins before the third decade and progresses to severe to profound bilateral hearing loss by the fourth decade. The platelet disorder manifests in early childhood and persists lifelong, although it tends to remain subclinical. Hematologic and ultrastructural findings will be contrasted to those found in Alport syndrome.
Insights
This study describes a rare genetic disorder combining macrothrombocytopenia and progressive hearing loss, notably without kidney issues, unlike previously documented cases.
Area of Science:
- Genetics
- Hematology
- Otolaryngology
Background:
- Hereditary macrothrombocytopenia and sensorineural hearing loss are rare conditions.
- Previous reports link these conditions with renal pathology.
- The genetic basis and clinical spectrum require further elucidation.
Observation:
- A kindred presented with hereditary macrothrombocytopenia and progressive sensorineural hearing loss.
- The disorder followed an autosomal dominant inheritance pattern across four generations.
- Affected individuals exhibited hearing impairment starting before age 30, progressing to profound bilateral loss by age 40.
Findings:
- This kindred demonstrated macrothrombocytopenia and sensorineural hearing loss without any renal dysfunction.
- The platelet disorder was subclinical and present from early childhood.
- Hematologic and ultrastructural findings were distinct from Alport syndrome.
Implications:
- This case expands the known clinical spectrum of macrothrombocytopenia-associated hearing loss.
- The absence of renal pathology in this kindred suggests distinct genetic or molecular mechanisms.
- Further research is warranted to identify the specific genetic mutations and understand the pathophysiology.
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