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Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.
J Neurosurg Pediatr 2016; 25(6):717-723JN

Abstract

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.

Authors+Show Affiliations

Departments of 1 Neurosurgery and.Departments of 1 Neurosurgery and.Departments of 1 Neurosurgery and.Departments of 1 Neurosurgery and. Radiology, Stanford University Medical Center, Palo Alto, California; and.Departments of 1 Neurosurgery and. Radiology, Stanford University Medical Center, Palo Alto, California; and.Departments of 1 Neurosurgery and. Radiology, Stanford University Medical Center, Palo Alto, California; and.Division of Genetics, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.Departments of 1 Neurosurgery and.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27611897

Citation

Teo, Mario, et al. "Surgical Outcomes of Majewski Osteodysplastic Primordial Dwarfism Type II With Intracranial Vascular Anomalies." Journal of Neurosurgery. Pediatrics, vol. 25, no. 6, 2016, pp. 717-723.
Teo M, Johnson JN, Bell-Stephens TE, et al. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. J Neurosurg Pediatr. 2016;25(6):717-723.
Teo, M., Johnson, J. N., Bell-Stephens, T. E., Marks, M. P., Do, H. M., Dodd, R. L., ... Steinberg, G. K. (2016). Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. Journal of Neurosurgery. Pediatrics, 25(6), pp. 717-723.
Teo M, et al. Surgical Outcomes of Majewski Osteodysplastic Primordial Dwarfism Type II With Intracranial Vascular Anomalies. J Neurosurg Pediatr. 2016;25(6):717-723. PubMed PMID: 27611897.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. AU - Teo,Mario, AU - Johnson,Jeremiah N, AU - Bell-Stephens,Teresa E, AU - Marks,Michael P, AU - Do,Huy M, AU - Dodd,Robert L, AU - Bober,Michael B, AU - Steinberg,Gary K, Y1 - 2016/09/09/ PY - 2016/9/10/pubmed PY - 2017/2/15/medline PY - 2016/9/10/entrez KW - ACoA = anterior communicating artery KW - ICA = internal carotid artery KW - MCA = middle cerebral artery KW - MMD = moyamoya disease KW - MOPD II = Majewski osteodysplastic primordial dwarfism Type II KW - Majewski osteodysplastic primordial dwarfism KW - PICA = posterior inferior cerebellar artery KW - SAH = subarachnoid hemorrhage KW - STA = superficial temporal artery KW - TIA = transient ischemic attack KW - VB = vertebrobasilar KW - bypass KW - intracranial aneurysm KW - moyamoya disease KW - vascular disorders SP - 717 EP - 723 JF - Journal of neurosurgery. Pediatrics JO - J Neurosurg Pediatr VL - 25 IS - 6 N2 - 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. SN - 1933-0715 UR - https://www.unboundmedicine.com/medline/citation/27611897/Surgical_outcomes_of_Majewski_osteodysplastic_primordial_dwarfism_Type_II_with_intracranial_vascular_anomalies_ L2 - https://thejns.org/doi/10.3171/2016.6.PEDS16243 DB - PRIME DP - Unbound Medicine ER -