Afshin Borhani-Haghighi MD^•*, Behnam Sabayan*

Authors’ affiliation: *Department of Neurology, Shiraz University of Medical Sciences, Shiraz, Iran.

•Corresponding author and reprints: Afshin Borhani-Haghighi MD, Department of Neurology, Nemazi Hospital, Shiraz, Iran.

Telefax: +98-711-626-1089, E-mail: borhanihaghighi@yahoo.com

Accepted for publication: 20 November 2007

 

 38-year-old woman presented with sudden weakness of the left upper and lower extremities, severe headache, repeated vomiting, and decreased level of consciousness since five to six hours prior to admission. She had no history of diabetes mellitus, hypertension, or any other remarkable diseases. She was normotensive at the time of admission. On general examination, the patient had some characteristic cutaneous lesions on her trunk and extremities (Figure 1A). On neurologic examina-tion, she was in a stupor state with a dense left hemiplegia, and had a positive Babinski sign in the left side and a gaze deviation to the right side. Brain computed tomography (CT) revealed a large area of hemorrhage in the right fronto-temporal area (Figure 1B). A digital subtraction angiography of cerebral vessels with intravenous contrast was obtained (Figure 1C).

 

 

 

What is Your Diagnosis?

See the next page for the diagnosis

 

 

 

 

Photography of skin of the back of the patient (Figure1) shows light brown cutaneous few-centimeter patches (café au lait) associated with  several flesh-colored pedunculated cutaneous tumors measuring about one centimeter or more (molluscum fibrosum).

Digital subtraction angiography (Figure 1B) shows bilateral absence of the anterior and middle cerebral arteries probably due to occlusion from proximal portions. Also, a fine network of vessels over the basal surface of the brain, distal to the circle of Willis (rete mirabile) was detected. These findings are in favor of moyamoya disease. No associated aneurysm was seen.

Moyamoya disease is characterized by progressive stenosis or occlusion at the distal ends of the bilateral internal carotid arteries that subsequently may progress to their major branches. To compensate progressive ischemic changes of the carotid system, an abnormal capillary network develops at the base of the brain, named as rete mirabilis.  Usually, moyamoya disease manifests by signs and symptoms of cerebral ischemia or infarction in childhood and intracerebral or subarachnoid hemorrhage in adulthood. Ischemic manifestations of moyamoya disease include transient ischemic attack (TIA), reversible ischemic neurologic deficit, and stroke. Moyamoya disease also presents as headache, choreiform movements, seizure, dementia, and hypothalamic-pituitary dysfunction. Episodic symptoms are often precipitated by hyperventilation or rise in body temperature. Intracranial hemorrhage is more common in affected adults but can manifest in children as well. Factors that may contribute to bleeding include hypertension and aneurysms. There is also a higher incidence in females. The conditions associated with moyamoya are neurofibromatosis, sickle cell disease, Down syndrome, thalassemia, craniopharyngioma, Wilms’ tumor, trauma, and radiation.¹

Neurofibromatosis or von Recklinghausen disease is a neurocutaneous disorder, which includes numerous different forms. Two major subtypes exist: Neurofibromatosis 1 (NF-1), which is the most common subtype and is referred to as peripheral NF, and neurofibromatosis 2 (NF-2), which is referred to as central NF. The hallmarks of NF-1 are the multiple café au lait spots and associated cutaneous neurofibromas. Café au lait spots are flat, uniformly hyperpigmented macules, which appear during the first year after birth and usually increase in number during early childhood. Neurofibromas are composed of Schwann cells, fibroblasts, mast cells, and vascular components.  Acoustic neurinoma and other intracranial tumors, iris hamartomas (Lisch nodules), axillary and inguinal freckling, endocrine disorders, skeletal abnormalities, and mental impairments are other manifestations of neurofibromatosis.²

There are several reports of association of moyamoya disease and NF-1, similar to what we reported in our patient.^3,4 About 2.5% of children with NF-1 who underwent brain magnetic resonance imaging had an abnormality of the cerebrovascular system, including narrowed or ectatic vessels, vascular stenoses, aneurysm, and moyamoya.⁵

There are several lines of evidence indicating that moyamoya disease is related to genetic factors in familial cases. The gene abnormality has been detected in chromosome 17q25.2. NF-1 gene is also mapped on chromosome 17q11.2. The association of NF-1 and moyamoya disease can be justified by neighborhood of their genes on chromosome 17.⁶

 

References

 

1         Yonekawa Y, Kahn N. Moyamoya disease. Adv Neurol. 2003; 92: 113 – 118.

2         Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol. 2005; 32: 221 – 228.

3         Siqueira- Neto JI, Silva GS, De Castro JD, Santos AC. Neurofibromatosis associated with moyamoya arteriopathy and fusiform aneurysm: case report [in Portuguese]. Arq Neuropsiquiatr. 1998; 56: 819 – 823.

4         Fujimura T, Terui T, Kusaka Y, Tagami H. Neurofibromatosis 1 associated with an intracranial artery abnormality, moyamoya disease, and bilateral congenital large hairy pigmented macules. Br J Dermatol. 2004; 150: 611 – 613.

5         Rosser TL, Vezina G, Packer RJ. Cerebrovascular abnormalities in a population of children with neurofibromatosis type1. Neurology. 2005; 64: 553 – 555.

6         Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke. 2000; 31: 930 – 935.

---

AIM Home | Table of Contents