Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.
OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD presented at a younger age than those in whom aneurysms were more prevalent. Microneurosurgery with either intracranial bypass or aneurysm clipping is extremely challenging but feasible at expert centers in patients with MOPD II, and good long-term outcomes are possible.
Departments of 1 Neurosurgery and.
Mario
M
Teo
Departments of 1 Neurosurgery and.
Jeremiah N
JN
Johnson
Departments of 1 Neurosurgery and.
Teresa E
TE
Bell-Stephens
Departments of 1 Neurosurgery and.|Radiology, Stanford University Medical Center, Palo Alto, California; and.
Michael P
MP
Marks
Departments of 1 Neurosurgery and.|Radiology, Stanford University Medical Center, Palo Alto, California; and.
Huy M
HM
Do
Departments of 1 Neurosurgery and.|Radiology, Stanford University Medical Center, Palo Alto, California; and.
Robert L
RL
Dodd
Division of Genetics, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
Michael B
MB
Bober
Departments of 1 Neurosurgery and.
Gary K
GK
Steinberg
D000293:Adolescent; D002561:Cerebrovascular Disorders / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging* / Q000601:surgery*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery*; D011446:Prospective Studies; D012042:Registries; D016896:Treatment Outcome
ACoA = anterior communicating artery; ICA = internal carotid artery; MCA = middle cerebral artery; MMD = moyamoya disease; MOPD II = Majewski osteodysplastic primordial dwarfism Type II; Majewski osteodysplastic primordial dwarfism; PICA = posterior inferior cerebellar artery; SAH = subarachnoid hemorrhage; STA = superficial temporal artery; TIA = transient ischemic attack; VB = vertebrobasilar; bypass; intracranial aneurysm; moyamoya disease; vascular disorders