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Brainstem and Cerebellar Hypoplasia Associated with Osteogenesis

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Brainstem and Cerebellar Hypoplasia Associated with Osteogenesis � Letters scaled viper (Echis carinatus) venom. Toxicon 1999;37:1659-71. developed fracture of left femur. X-ray skull and spine showed 2. Warrell DA, Davidson NM, Greenwood BM, Ormerod LD, Pope HM, Watkins BJ, et al. Poisoning by bites of saw-scaled or carpet viper (Echis carinatus) in generalized osteoporosis with platybasia and basilar Nigeria. Quart J Med 1977;181:33-62. invagination. MRI brain showed non- formation of tentorium 3. Marik PE. Fever in the ICU. Chest 2000;117:855-69. 4. Vasconcelos CM, Valenca RC, Araujo EA, Modesto JC, Pontes MM. causing gross inferior descent of the occipital lobe up to the Distribution of 131-I labeled Bothrops erythromelas venom in mice. Braz J level of medulla. There was non-formation of bilateral Med Biol Res 1998;31:439-43. 5. Taoka H. Experimental study on the pathogenesis of acute acalculous cerebellar hemispheres and vermis with hypoplasia of the brain cholecystitis, with special reference to the roles of microcirculatory stem. There was diffuse paucity of myelination in bilateral disturbances, free radicals and membrane-bound phospholipase A2 . Gastroenterol Jpn 1991;26:633-44. cerebral hemispheres with poor differentiation of basal ganglia and thalamus. [Figures 2 and 3]. With this picture and a child presenting with multiple bone fractures with hyperplasic callus formation, generalized osteopenia and normal serum biochemical parameters, the diagnosis of osteogenesis imperfecta type V was made. The immediate differential Brainstem and cerebellar diagnosis of a child with generalized osteopenia and multiple hypoplasia associated with bone fractures include- rickets, renal tubular acidosis and hypoplasia associated with hypoparathyroidism, all of which where excluded by normal osteogenesis imperfecta type-5 serum biochemical parameters like calcium, phosphorus and alkaline phosphatase. The child was started on palmidronate infusion 1 mg/kg/24 hr daily in order to inhibit bone resorption Sir, Osteogenesis imperfecta type V is characterized by multiple bone fractures with hyperplastic callus formation in patients with white sclerae and usually negative family history of the disorder.[1,2] Neurological complications associated with Osteogenesis imperfecta (OI) include basilar invagination, brainstem compression, hydrocephalus and syringohydromyelia.[3] There is only one case report of OI type 4 associated with cerebellar hypoplasia in a Chinese infant.[4] The proposed mechanism for cerebellar hypoplasia is in utero vascular compromise by compression of posterior circulation due to associated craniovertebral anomalies.[1] Herein we report a case of brain stem and cerebellar hypoplasia associated with osteogenesis imperfecta type 5, which may support the hypothesis of vascular compromise as the cause of brain stem cerebellar hypoplasia in OI. A five-month-old male child born of second-degree Figure 1: MRI Brain Axial showing hypoplasia of brain the stem and consanguinous marriage was admitted with complaints of cerebellum developmental delay and fractures of both arms. Antenatal, natal, postnatal periods were uneventful. The mother noticed visual impairment and deafness and child was sleeping with eyes half open. On examination, the child had microcephaly, flat occiput and dysmorphic facies (microphthalmia, low set ears and micrognathia). Vision and hearing were impaired on clinical testing. Ocular movements were restricted in all directions in both the eyes and associated with decreased movements of facial muscles. There was generalized hypotonia and head unsteadiness. There was a soft tissue swelling in the right arm. Investigations showed Hb concentration 11 gm/dl, Total leukocyte count: 6400 cells/cmm, Differential count P60%, L 40%, ESR 11 mm/hr, Blood Urea Nitrogen 16 mg%, S. Creatinine: 0.8 mg%, Ca++ 8.4 mg%, S. Phosphorus: 4.8 mg% and S. Alkaline phosphatase: 239 IU. BAER and VEP were abnormal with no formation of waveforms bilaterally. X-ray showed fracture of both humer with hyperplastic callus Figure 2: MRI Brain Sagital section showing hypoplasia of the brain stem formation [Figure 1]. While in the hospital, the child and cerebellum with descent of cortex down posteriorly � 152 J Postgrad Med April 2006 Vol 52 Issue 2 Letters � References 1. Ramirez N, Vilella FE, Colon M, Flynn JM. Osteogenesis imperfecta and hyperplasic callus formation in a family: a report of three cases and review of literature. J Pediatr Orthop B 2003;12:88-96. 2. Paterson CR, McAllion S, Miller R. Osteogenesis imperfecta with dominant inheritance and normal sclerae. J Bone Joint Surg Br 1983;65:35-9. 3. Charnas LR, Marini JC. Communicating hydrocephalus, basilar invagination and other Neurologic features in osteogenesis imperfecta. Neurology. 1993;43:2603-8. 4. Zhou LJ, Khong PL, Wong KY, Ooi GC. A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta. Hong Kong Med J 2004;10:211­ 3. 5. Astrom E, Soderhall S. Beneficial effect of long-term intravenous biphosphonate in Osteogenesis imperfecta. Arch Dischild 2002;86:356-64. 6. Plotkin H, Rauch F. Pamidronate treatment in severe osteogenesis imperfecta in children under 3 years age. J Clin Endocrinol Metab 2000;11:85-90. Figure 3: X-rays showing fracture of right humerus with hyperplastic callus formation on right half and fracture of left femur with no callus on left half of figure 3 Cicatricial ectropion due to herpes zoster ophthalmicus thus increasing bone mineralisation. Osteogenesis imperfecta (OI) or Brittle bone disease is the most common genetic cause of osteoporosis.[5,6] The OI is Sir, caused by structural or quantitative defect in type I collagen. We present the clinical features and management of an unusual OI has the triad of fragile bone, blue sclerae and early deafness. case of cicatricial ectropion of the upper lid secondary to herpes O1 type V is characterized by recurrent multiple fractures in a zoster ophthalmicus (HZO) in an immunodeficient patient. child following ambulation with hyperplastic callus formation at the sites of fracture.[3] This may be associated with Case History calcification of introsseus membrane of forearm and a radidsense metaphyseal band. The diagnosis is usually clinical An 83-year-old lady suffering from chronic lymphocytic and may be confirmed by collagen biochemical studies using leukaemia (CLL) was referred with a history of left herpes zoster fibroblast cultured from a skin punch biopsy. ophthalmicus (HZO). The episode, which had been treated with systemic antivirals, had occurred 4 months prior to the The recognized neurological complications of OI include referral. There was no intraocular involvement. On presentation cranio-vertebral junction anomalies like basilar invagination, to us, the vision was 6/24 on right and 1/60 on the left side. She syringohydromyelia, hydrocephalus and brainstem had an uncomfortable red left eye. On examination [Figures 1 compression.[2] There is one case report of cerebellar hypoplasia a, b, c, d], there was scarring on the left forehead extending associated with OI type 4.[1] This is the first case report of down to the upper lid. The scar tissue had contracted resulting brainstem and cerebellar hypoplasia associated with OI type in upper lid eversion and retraction. She had poor lid closure V. The proposed machanism for cerebellar hypoplasia is in­ and significant lagophthalmos. The exposed tarsal conjunctiva utero vascular compromise due to associated cranio-vertebral was keratinised and she had developed exposure keratopathy junction anomalies.[1] In our patient all of the posterior with a circumferential pannus, a hazy lustreless cornea and a circulation structures are hypoplastic supporting the hypothesis central epithelial defect. Rest of the ocular examination was of vascular compromise. unremarkable. Treatment with biphosphonate drugs is effective in improving In view of her age and general condition, she was offered a mobility and decreasing symptoms in many patients.[5,6] conservative tarsorrhaphy but she preferred reconstructive Intravenous pamidronate or oral alendronate improve quality surgery. Under local anesthesia, a left upper lid wedge (18 by of life and inhibit bone resorption thus increasing bone 12 mm) was resected to remove the cicatrix. The temporal mineralisation. These agents decrease the frequency of upper lid was refashioned with a modified lateral tarsal strip. A fractures and amelionate bone pain. full thickness skin graft from the left upper arm was excised, thinned and sized to reform the anterior lamella. Syamlal S, Shine S, Kunju M Histopathology of the excised tissue revealed squamous Department of PG Paediatric Neurology, Medical college metaplasia and a chronic active inflammatory infiltrate Thiruvananthapuram, India indicating post-inflammatory scarring. Correspondence: Post-operatively the graft took well [Figure 2]. Full lid function S. Syamlal, E-mail: [email protected] was restored and the corneal epitheliopathy resolved. J Postgrad Med April 2006 Vol 52 Issue 2 153 � .
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