Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child
Diana Negrón1, Lillian Colón-Castillo, Ilia Morales-Melecio
1Department of Pathology and Laboratory Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.
Insights
This case study describes a 12-year-old boy with myelofibrosis and retinopathy who experienced sudden neurological deficits, multiorgan failure, and death. Findings suggest a potential diagnosis of Revesz syndrome, a rare genetic disorder.
Area of Science:
- Pediatric Hematology
- Neuropathology
- Medical Genetics
Background:
- Myelofibrosis is a bone marrow disorder characterized by fibrosis.
- Retinopathy can be associated with various systemic conditions.
- Coagulopathy and multiorgan failure indicate severe systemic illness.
Observation:
- A 12-year-old boy presented with sudden neurological deficits.
- He had a history of myelofibrosis and retinopathy.
- The patient experienced coagulopathy, multiorgan failure, and ultimately death.
Findings:
- Fluorescent in situ hybridization revealed monosomy of chromosome 7 in bone marrow cells.
- Postmortem neuropathology showed cerebral calcifications and hemorrhages.
- These findings support a diagnosis of myelofibrosis and explain neurological deterioration.
Implications:
- The combination of myelofibrosis, retinopathy, and cerebral calcifications suggests Revesz syndrome.
- This case highlights the complex presentation of rare genetic disorders.
- Further research into Revesz syndrome is warranted to improve diagnosis and management.
Abstract:
We report a case of a 12-year-old boy with history of myelofibrosis and retinopathy who developed sudden neurological deficits associated with coagulopathy, multiorgan failure, and death. A fluorescent in situ hybridization study revealed monosomy of chromosome 7 in 21% of the bone marrow cells in support of his diagnosis of myelofibrosis. Postmortem neuropathology examination revealed multiple coarse and microcalcifications and cerebral hemorrhages, explaining the patient's neurological deterioration. The findings of myelofibrosis, retinopathy, and cerebral calcifications indicate that this could be a case of a rare condition known as Revesz syndrome.
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