A 4 yrs old female child was admitted with left hemiparesis

and unconsciousness and a short history of

neurological impairment, changing neurological signs

with progress of the disease and most of relevant laboratory

investigations being normal, child underwent MRI

and MRA which revealed features of Moya moya disease

Gurudutt Joshi

Directory of Open Access Journals

 Journal of Krishna Institute of Medical Sciences UniversityJKIMSU, Vol. 3, No. 1, Jan-June 2014116CASE REPORTMoya Moya Disease: Presenting With Changing Neurological SignsGurudutt Joshi1*1Department of Pediatrics, Surat Municipal Institute of Medical Education and Research(S.M.I.M.E.R.), Sahara Gate, Surat - 395001(Gujarat), IndiaAbstract: A 4 yrs old female child was admitted with left hemi-paresis and unconsciousness and a short history ofneurological impairment, changing neurological signswith progress of the disease and most of relevant labo-ratory investigations being normal, child underwent MRIand MRA which revealed features of Moya moya dis-ease.Keywords: Moyamoya disease, puff of smoke, MRI.Introduction:Moyamoya is a rare idiopathic progressive vaso-oc-clusive disease characterized by irreversible occlu-sion of main blood vessels to the brain as they enterinto the skull. The occlusive process stimulates thedevelopment of an extensive network of enlargedbasal transcortical and transdural collateral vessels [1,2]. Kudo first reported this pattern of collateral flowin 1960 [3]. This  process  may  be due to variousexternal stimuli, injuries, hereditary defects but in somecases no etiology can be found, as a result  patientsmay present  with  various  neurological  signs andsymptoms which may be progressive and changing.Case Report:A 4 years old female child presented with inability towalk since one week, unable to speak, eat sit, devia-tion of mouth and unconsciousness, since one day.On admission, she was diagnosed initially as left hemi-paresis, ipsilateral facial palsy, generalized hypotonia,coma but no signs of meningeal irritation, later unilat-eral hemiparesis developed into quadriplegia within2-3 days. She had a history of generalized tonic clonicconvulsions and unconsciousness before 8 monthshowever no investigations were carried out at that timeand another episode of history of difficulty in walkingand weakness of left lower limb before 2 months ofadmission, from which she recovered within oneweek. There were no clinical or radiological evidenceof T.B. Her routine immunization was complete forthe age except the last boosters for OPV and DPT.Her developmental at history was normal and therewas no history of exposure to cranial irradiation. Onclinical examinations the other systems were normal.Her laboratory investigations showed normal com-plete blood count serum electrolytes, cerebro spinalfluid coagulation and lipid profile, renal function testsand liver function tests. Test for sickling, M.T. andP.S. M.P. were negative. Chest X-ray and funduswere also normal.Her initial MRI report showed areas (Acute infarcts)involving the right fronto-parietal region (Fig. 1) andsubsequent MRI after a week showed multiple sub-acute infarcts/ischemia in right fronto-parietal lobes inright.ISSN 2231-4261Fig. 1: Infarct Right Fronto-Parietal Region Journal of Krishna Institute of Medical Sciences UniversityJKIMSU, Vol. 3, No. 1, Jan-June 2014 Gurudutt Joshi117  Fig. 4: Few Thalmoperforators (Moyamoya)Collaterals in Peri-Mesencephalic CisternMCA territory area: Similar multiple small recentinfarcts/ischemia is also detected in left fronto pari-etal, temporal and left basal ganglia in left MCA terri-tory (Fig. 2)MR angiography images through circle of willis re-vealed progressive narrowing in supraclenoidportion of both ICA. Subtle narrowing is also seen incavernous and petrous portion of left ICA. (Fig. 3)Few thalamo perforator collaterals (Moya Moya col-lateral) detected in ambient and peri- mesencephaliccistern, gives “Puff of smoke” appearance. (Fig. 4)Discussion:The word moya is Japanese, and is taken to mean“tiny”, referring to the tiny vessel network that forms.Moyamoya disease although reported in Japan, af-fects all races. Precise cause of the disease is un-known [4].   It is a chronic, progressive, non-inflam-matory vasculopathy resulting in slowly progressive,bilateral occlusion of the internal carotid arteries start-ing at carotid syphon.The basilar artery is sometimes occluded as well,because the occlusion is slowly progressive multipleanastomoses form between the external and internalcarotids. The result is new vascular network at thebase of brain composed of collaterals from anterioror posterior choroidal arteries. On MR angiography,these telangiectasias produce a hazy appearance, like“Puff of Smoke” [5]. In children, Moyamoya diseasepresents with symptoms suggestive of ischemia of brainFig. 2: Multiple Infarcts Right and Left Fronto-Parietal, Temporal and Left Basal Ganglia.Fig. 3: Narrowing in Supraclenoid Portion of bothICA Journal of Krishna Institute of Medical Sciences UniversityJKIMSU, Vol. 3, No. 1, Jan-June 2014 Gurudutt Joshi118with episodes of seizures, focal neurological deficits,recurrent strokes or alternating hemiplegia. It is asso-ciated with Sturge weber syndrome, neurofibroma-tosis, Down syndrome, Fanconi’s anemia, sickle cellanemia, cranial irradiation, genetic [4].It is characterized by stenosis or occlusion of termi-nal portions of the intracranial internal carotid arteriesand the proximal portions of the anterior and middlecerebral arteries with abnormal vascular networks intheir vicinity visible as “puff of smoke” on MR an-giography.MRI with angiography is the investigation of choicefor moya moya syndrome [6]. Findings of this naturebilaterally are considered definitive of Moyamoya dis-ease if unilateral as “probable cases” [7-10]. Accord-ing to the above guidelines our case has MRI andMRA findings similar to the definite of Moyamoyadisease. However there was a history of fall in thepast with generalized tonic and clonic convulsions andunconsciousness which was either due to head traumaper se or because of the cerebro-vascular blockagecould not be concluded as she was not investigatedat that time. Around 50% of children with Moyamoya disease willhave no long term sequel if left untreated [4]. Thispatient presented with initial facial paralysis, hemipare-sis, progressing to quadriplegia from which she hadpartially recovered at the time of discharge and re-covery is still progressive on follow up. Most of therelevant investigations were normal. Provisional  di-agnosis of vaso-occlusive disease with such  presen-tation may have to be kept in  differentiating  the con-ditions  associated with changing neurological patternsand of sudden onset and radiologically  investigatedwith  neuroimaging.Synangiosis is the treatment of  choice, with somevariations in the origin of  the  vascular supply of graftwhich  are useful  to confirm  the diagnosis is MRI,MRA and the operations described  are EDAS: Encephaloduroarteriosynangiosis EDMS: Encephaloduro arteriomyosynangiosis EMS: Encephalomyosynangiosis [11] STA: MCA superficial temporal to middle cerebralartery anastomosis.Conclusion:Any child presenting with changing neurological signswith convulsions should be considered to have rareconditions like Moya moya disease in differential di-agnosis, especially when routine CNS investigationsare normal. Journal of Krishna Institute of Medical Sciences UniversityJKIMSU, Vol. 3, No. 1, Jan-June 2014*Author for correspondence: Dr. Gurudutt Joshi 602, Neelganga Apt. Opp. St. Xaviers High School, BehindAmrutdhara, Near Chinmay Hospital, Ghod Dod Road,Surat (Gujarat) - 395007; Cell: 9879185696 E-mail:  joshigurudutt@yahoo.comGurudutt Joshi119References:1. Gosalakkal JA. Moyamoya disease: a review. NeurolIndia 2002; 50(1):6-10.2. Kitahara T, Ariga N, Yamaura A, Makino H, Maki Y. Fa-milial occurrence of moya-moya disease: report of threeJapanese families. J Neurol Neurosurg Psychiatry 1979;42(3):208-214.3. Rolf J, Dawn S. Cranial and Intracranial Pathology.Grainger and Allison’s diagnostic radiology. ChurchillLivingstone, 2001.4. McIntosh N, Helms P, Forfar. Text book of Pediatrics. 6thed. Churchill Livingstone Elsevier; 2003.5. Fenichel  G M. Clinical pediatric Neurology. A signs &symptoms approach. 4th ed.   W.B. Saunders; 20016. Scott W. Atlas, MR angiography: Techniques and Clini-cal Applications MRI of the Brain and Spine 3rd ed.,Lippincott Williams and Wilkins, Philadelphia, 2002;1021-1023.7. Masuda J, Ogata J, Yamaguchi T. Moyamoya disease.In: Barnett HJM, Mohr JP, Stein BM, Yatsu FM.( ed.).Stroke: Pathophysiology, Diagnosis and Management.3rd ed.  Philadelphia:  Churchill Livingstone; 1998.8. Ikezaki K, Loftus C, “Moyamoya disease” ThiemiNewyork 2001. Available from www.google books/Moyamoya disease / Chapter 3 “Definitions” (assessedon 13 Jun 2010)9. Fukui M, Kono S, Sueishi K, Ikezaki K. Moyamoya dis-ease. Neuropathology 2000; 20 Suppl: S61-64.10. Fukui M. Guidelines for the diagnosis and treatment ofspontaneous occlusion of the circle of Willis(‘moyamoya’ disease). Research Committee on Sponta-neous Occlusion of the Circle of Willis (Moyamoya Dis-ease) of the Ministry of Health and Welfare, Japan. ClinNeurol Neurosurg 1997; 99 Suppl 2:S238-240.11.  Arnold PG, Abha LC, Cerebrovascular diseases. In;Rudolph A M., Hoffman I.E. (eds) Rudolf’s Pediatrics20th ed. Stanford: Appleton and Lange; 1996:1925.

Moya Moya Disease: Presenting With Changing Neurological Signs

http://www.jkimsu.com/jkimsu-vol3no1/JKIMSU.%20Vol.%203,%20No.%201,%20Jan-June%202014,Page%20116-119.pdf

Moya Moya Disease: Presenting With Changing Neurological Signs

Abstract

Similar works

Full text

Available Versions

Directory of Open Access Journals