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Cama A, Tortori‑Donati P, Piatelli GL, Fondelli MP, Andreussi L. Chiari complex in children – Neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases). Eur J Pediatr Surg 1995;5 Suppl 1:35‑8. 3. Häberle J, Hülskamp G, Harms E, Krasemann T. Cervical encephalocele in a newborn – Chiari III malformation. Case report and review of the literature. Childs Nerv Syst 2001;17:373‑5. 4. Castillo M, Quencer RM, Dominguez R. Chiari III malformation: Imaging features. AJNR Am J Neuroradiol 1992;13:107‑13. 5. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic factors in patients with occipital encephalocele. Pediatr Neurosurg 2010;46:6‑11. 6. Hadley DM. The Chiari malformations. J Neurol Neurosurg Psychiatry 2002;72 Suppl 2:ii38‑40. 7. McLone DG, Dias MS. Normal and abnormal early development of the nervous system. In: Cheek NR, Manlin AE, McLone DG, Reigel DH, Walker ML, editors. Pediatric Neurosurgery. Surgery of the Developing Nervous System. 3rd ed. Philadelphia: WB Saunders and Company; 1994. p. 3‑37. 8. McLone DG, Knepper PA. The cause of Chiari II malformation: A unified theory. Pediatr Neurosci 1989;15:1‑12. 9. Lee R, Tai KS, Cheng PW, Lui WM, Chan FL. Chiari III malformation: Antenatal MRI diagnosis. Clin Radiol 2002;57:759‑61. 10. Raimondi AJ. Pediatric neuroradiology. Philadelphia: WB Saunders and Company; 1972. p. 275‑343.
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DOI: 10.4103/1817-1745.123702
Sacral agenesis with club shaped conus Dear Sir, A 4‑month‑old boy presented with club feet and flattened buttock. The antenatal period was normal without a history of exposure to radiation, toxins, drugs or intrauterine infections or gestational diabetes. At birth parents noticed bilateral club feet with flattened buttocks. His motor, language and social development were normal. He had equinovarus deformity of left foot with reduced gluteal mass and abnormal skin folds over the buttocks [Figure 1a], without any evidence of spina bifida, dimple or dermal sinus or other bony deformity. His other systemic examination as well as 2D echo and ultrasound abdomen was normal. Radiograph pelvis showed total absence of sacral bones with iliac wings fused to lateral borders of lower most vertebras with normal transverse pelvic diameter. Magnetic resonance imaging of spine revealed sacral agenesis (SA) with abruptly ending club shaped conus at the level of T11 [Figure 1b‑d]. SA is a rare congenital disorder which involves absence of only coccyx to sacral, lumbar and even thoracic vertebrae with 256 / Journal of Pediatric Neurosciences / Volume 8 / Sep-Dec / 2013
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Figure 1: (a) Clinical photograph showing flattened buttocks, shallow gluteal fold, (b) T2 weighted sagittal image of lumbosacral spine shows non tapering conus medullaris at upper border of D11 vertebral body (c) wedge shape of conus is due to dorsal half extending further than ventral half and is due to relative preservation of dorsal sacral roots and dorsal ganglia central T2 hyperintensity might be due to prominent terminal ventricle. Stretched out nerve roots are seen distally with narrow distal canal (d) radiograph pelvis anteroposterior view shows total absence of sacral bones with iliac wings fused to lateral borders of lower vertebra with normal transverse pelvic diameter
incidence of 0.01‑0.05/1000 live births.[1,2] The exact etiology is not known but is reported in association with maternal diabetes, genetic factors and vascular hypoperfusion. Nearly 12‑22% of SA cases are associated with maternal diabetes mellitus.[3] The clinical presentation varies from flattened buttocks with abnormal skin fold, shortening of the intergluteal cleft, small gluteal masses and club feet to severe form with genitourinary, respiratory and nervous system abnormalities. The position of conus defines two distinct groups in patients with SA. In group 1, conus terminate abruptly at T11 or T12 vertebral body level with club/wedge shape while in group 2 conus ends below L2 with tethered cord.[4] In our case, S1 vertebral body is absent suggesting high bony aplasia.
Sujit Abajirao Jagtap, Harsha J. Kambale1, M. D. Nair
Departments of Neurology, and 1Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Thiruvananthapuram, Kerala, India
Address for correspondence: Dr. Sujit Abajirao Jagtap, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology,
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Thiruvananthapuram ‑ 695 011, Kerala, India. E‑mail:
[email protected]
References 1. Alexander E, Nashold BS. Agenesis of the sacrococcygeal region. J Neurosurg 1956; 13:507‑13. 2. Caird MS, Hall JM, Bloom DA, Park JM, Farley FA. Outcome study of children, adolescents, and adults with sacral agenesis. J Pediatr Orthop 2007;27:682‑5. 3. Stroustrup Smith A, Grable I, Levine D. Case 66: Caudal regression syndrome in the fetus of a diabetic mother. Radiology 2004;230:229‑33. 4. Renshaw TS. Sacral agenesis. J Bone Joint Surg Am 1978;60:373‑83. Access this article online Quick Response Code:
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DOI: 10.4103/1817-1745.123705
Pontobulbar palsy and sensorineural deafness (Brown‑Vi‑ aletto‑van Laere syn‑ drome): A case from Northwest Iran Brown–‑Vialetto–‑van Laere (BVVL) syndrome is a rare neurological disorder, which usually presents in late childhood and adolescence with various neurological symptoms and is characterized by progressive ponto‑bulbar palsy and bilateral sensorineural deafness that usually precedes neurological symptoms.[1‑3] It was first described in 1894 and since then almost 65 cases have been reported. Nearly 50% of patients are sporadic cases[1,3] and it usually involves females more than males.[1] In this report, we describe a patient with BVVL syndrome with clinical and neurophysiological evidence of progressive nerve damage from Northwest of Iran. In the literature, there are only four reported BVVL syndrome cases from Iran.[4] This paper reports a 10‑year‑old female patient from Tabriz, Northwest Iran with complete vaccination as scheduled with no family history of any progressive neuromuscular disease and no history of cognitive disorders. The symptoms first
begun at the age of two years with decreased attention to acoustic stimulus; this disorder deteriorated during the time and presented with difficulty in speaking and swallowing and dysphagia for solids. Two to three years later, the patient had progressive weakness and atrophy in upper limbs causing difficulty in combing the hair, picking up small objects and doing elegant works by hand. She had difficult gait with multiple fallings. She lost weight during this period. She had no sphincter weakness. She was weak and slender with body weight of 22 kg, height of 133 cm and body mass index of 12.43 kg/m2. On physical examination, she was a little anxious and had reduced cooperation due to hearing loss. Her speech was dysphonic and dysarthric. In the evaluation of cranial nerves, we observed atrophic tongue with ample fasciculations, poor gag reflex and palate weakness. Rinne and Weber tests were abnormal. There was no ptosis, no ocular movement impairment. She had horizontal nystagmus and had ataxic and wide‑base gait with decreased upper limb movement with no truncal ataxia. Romberg’s test was positive only with eyes closed. Finger to nose test was not reliable due to upper limb weakness. Facial muscle examinations were normal. She had no sphincter disturbances.There was slight weakness in extensor and flexor muscles of the neck. Upper limbs were completely atrophic with decreased muscle tone and power especially in distal muscles, lower limbs had a normal muscle tone with slightly decreased muscle power in both proximal and distal muscles. Deep tendon reflexes were absent in upper limb and were pathologic in lower limbs. Plantar responses were extensor. Pain sense was normal, but other sensations in both limbs were not tested due to patient’s poor cooperation. Auditory brainstem response test showed severe sensorineural hearing loss. Blood tests, brain magnetic resonance imaging and electroencephalography were normal. In electromyography (EMG) nerve conduction study, the sensory nerve action potential was normal in upper and lower limbs. Compound muscle action potential was normal in lower limbs, but had severe amplitude reduction with normal latency and nerve conduction velocity in upper limb. In EMG, there were neurogenic changes including recruitment decrease, increase in amplitude and duration and polyphasic potentials with fibrillation in tongue muscles, proximal and distal muscles of upper limbs and proximal muscles of lower limbs [Tables 1 and 2]. Unfortunately, the patient died a month after our primary evaluation due to respiratory failure. The BVVL syndrome is a rare neurological disorder of unknown etiology, characterized by progressive pontobulbar palsy associated with sensorineural deafness.[1] The sensorineural hearing loss with progressive weakness and atrophy in upper limbs and tongue with ample fasciculations of the tongue in our female patient are consistent with the diagnosis of the BVVL syndrome. 2013 / Sep-Dec / Volume 8 / Journal of Pediatric Neurosciences / 257
