Indian J Pediatr (February 2017) 84(2):160–161 DOI 10.1007/s12098-016-2225-9
SCIENTIFIC LETTER
A Rare Cause of Recurrent Stroke in a Visually Impaired 10-year-old Girl Saipraneetha Chindanuru 1 & Rajarajan Paulpandian 1 & Thiagarajan Srinivasan 1 & Venkatesh Chandrasekaran 1 & Barath Jagadisan 1 & Niranjan Biswal 1 & Sunitha Vellathussery Chakkalakkoombil 2 & Ramesh Ananthakrishnan 2
Received: 1 March 2016 / Accepted: 24 August 2016 / Published online: 9 September 2016 # Dr. K C Chaudhuri Foundation 2016
To the Editor: A 10-y-old visually impaired girl presented with weakness of left upper and lower limb for past 7 d. There was no fever, seizures or altered sensorium. Past history, birth and family history were unremarkable. Admission Glasgow Coma Scale (GCS) was 15/ 15. She had scaphocephaly, prominent jaw (Fig. 1a), widened wrists, ankles and genu valgum. Pupillary reflex were sluggish bilaterally. Motor examination showed spasticity, with power of grade 3/5 and exaggerated reflexes on left upper and lower limb with bilateral positive Babinski’s sign. Roentgenogram of skull and long bones showed thickening of skull bones at the base (Fig. 1b) and Erlenmeyer flask deformity (Fig. 1c) respectively. Initial CT head for stroke was unremarkable except for skull base thickening. She was managed conservatively with low dose aspirin and occupational therapy. Three months later, she presented with sudden onset weakness of right upper and lower
* Venkatesh Chandrasekaran
[email protected]
1
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry 605006, India
2
Department of Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India
limb with dystonic movements predominantly involving the right side of the body. In view of recurrent stroke, Protein C, Protein S, Antithrombin III, Factor V Leiden mutation and Plasma Homocysteine levels were done which were all normal. Magnetic Resonance Imaging (MRI) of the brain showed acute white matter infarcts in bilateral peri ventricular white matter with mild narrowing of the bilateral petrous and cavernous segments of internal carotid arteries on angiography (Fig. 1d, e and f). Based on the typical radiological findings, a diagnosis of CranioMetaphyseal Dysplasia (CMD) was made in the child. She was managed with warfarin, occupational therapy, calcitriol supplementation and low calcium diet. CMD is a rare inherited disorder characterized by bony overgrowth of the facial and skull bones and metaphyseal widening of the tubular bones [1]. Skeletal abnormalities include frontonasal bossing, hypertelorism, prognathic mandible and defective dentition, obliteration of paranasal sinuses and mastoid, genu valgum, bowing of humerus, radii, and ulna. Blindness, deafness and facial nerve paresis due to compression of cranial nerves are usual. Compression of blood vessels at the skull base and foramen magnum can result in avascular infarcts. In severe forms, death may result from medullary compression at foramen magnum [1, 2]. Medical management of hyperostosis with calcitriol, bisphosphonates, low calcium intake and somatostatin have been tried in the past without
Indian J Pediatr (February 2017) 84(2):160–161
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Fig. 1 a Frontal profile of affected girl showing fronto-nasal bossing and prominent jaw b Lateral view skull radiograph showing grossly thickened cranial base c Radiograph of bilateral knee joints showing metaphyseal widening (Erlenmeyer flask- or club-shaped femurs), thinned cortex and decreased bony density in the metaphyses with metaphyseal flaring d FLAIR Axial imaging of MRI Brain showing bilateral periventricular white matter hyperintensities showing diffusion restriction (left more than right). In addition, asymmetrical and confluent T2/FLAIR
hyperintensities were also noted in bilateral periventricular white matter, corona radiata, centrum semiovale and in splenium of corpus callosum e Saggital section MRI angiography showing slight narrowing of petrous and cavernous part of internal carotid artery bilaterally (white arrows) f Maximum intensity projection coronal MR angiography image also shows narrowing of petrous and cavernous part of internal carotid arteries bilaterally (white arrows)
much success [3]. Rapid post operative bony overgrowth and technical difficulty limits the role of surgery [4]. Optic nerve decompression has shown inconsistent results [5]. This letter emphasizes the importance of general physical examination supplemented by bone radiographs in arriving at a diagnosis of CMD in children with recurrent stroke.
References
Compliance with Ethical Standards Conflict of Interest None. Source of Funding None.
1.
Day RA, Park TS, Ojemann JG, Kaufman BA. Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. Neurosurgery. 1997;41:960–4. 2. Richards A, Brain C, Dillon MJ, Bailey CM. Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol. 1996;110:328–38. 3. Key LL Jr, Volberg F, Baron R, Anast CS. Treatment of craniometaphyseal dysplasia with high dose calcitriol. J Pediatr. 1988;112:583–6. 4. Puliafito CA, Wray SH, Murray JE, Boger WP 3rd. Optic atrophy and visual loss in craniometaphyseal dysplasia. Am J Ophthalmol. 1981;92:696–701. 5. Satoh K, Iwata T, Ikeda H. Unsuccessful consequence of optic canal decompression for a case of craniometaphyseal dysplasia. Plast Reconstr Surg. 1994;94:705–8.
