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Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an
Luke D Perry1, Fergus Robertson, Vijeya Ganesan
1Neurology Department, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; Neurosciences Unit, UCL Institute of Child Health, London, United Kingdom. Luke.Perry@nhs.net
Abstract:
Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recessive condition frequently associated with early-onset cerebrovascular disease. Presymptomatic detection and intervention could prevent the adverse consequences associated with this. We reviewed published cases of microcephalic osteodysplastic primordial dwarfism type II to ascertain prevalence and characteristics of cerebrovascular disease and use these data to propose an evidence-based approach to cerebrovascular screening. Of 147 cases identified, 47 had cerebrovascular disease (32%), including occlusive arteriopathy (including moyamoya) and cerebral aneurysmal disease. Occlusive disease occurred in younger individuals, and progression can be both rapid and clinically silent. A reasonable screening approach would be magnetic resonance imaging and angiography of the cervical and intracranial circulation at diagnosis, repeated at yearly intervals until 10 years, and every 2 years thereafter, unless clinical concerns occur earlier. At present it would appear that this needs to be life-long. Families and professionals should be alerted to the potential significance of neurologic symptoms and measures should be taken to maintain good vascular health in affected individuals.
Insights
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) often involves early cerebrovascular disease. Early MRI/MRA screening is recommended to detect and manage these silent, progressive vascular conditions.
Area of Science:
- Genetics and rare diseases
- Neurology and vascular health
Background:
- Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder.
- MOPD II is frequently linked to early-onset cerebrovascular disease, posing significant health risks.
Observation:
- A review of 147 MOPD II cases revealed cerebrovascular disease in 32% (47 individuals).
- Observed conditions included occlusive arteriopathy (e.g., moyamoya) and cerebral aneurysms.
- Occlusive disease often affects younger individuals and can progress silently.
Findings:
- Cerebrovascular disease is prevalent in MOPD II, manifesting as occlusive arteriopathy and aneurysms.
- Early-onset and silent progression characterize these vascular complications.
- Screening is crucial for presymptomatic detection and intervention.
Implications:
- An evidence-based screening protocol involving regular MRI/MRA of the cerebrovascular system is proposed.
- Screening should commence at diagnosis, with specific intervals throughout life.
- Raising awareness among families and clinicians about neurologic symptoms and vascular health is vital.
