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Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.

Approximately half of childhood leukoencephalopathies remain unclassified despite extensive investigation 1 . Recently, some of them have been identified and categorized based on their distinct abnormalities detected on magnetic resonance imaging (MRI) [2][3][4][5][6] . A novel distinct leukoencephalopathy was described in 2003 by Van der Knaap et al. 7 Symptoms begin during childhood, with slow progression. Distinctive clinical findings include cerebellar, pyramidal and dorsal column dysfunction. Laboratory investigation is unrevealing. Typical findings on MRI and proton magnetic resonance spectroscopy ( H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum.KEY WORDS: leukoencephalopathy, brainstem, spinal cord, lactate.Leucoencefalopatia com envolvimento do tronco cerebral e da medula espinal e elevação do lactato cerebral: relato de três casos brasileiros RESUMO -Uma nova leucoencefalopatia foi recentemente descrita com base em achados característicos de ressonância magnética e espectroscopia de prótons por ressonância magnética. Leucoencefalopatia com envolvimento do tronco cerebral e da medula espinal e elevação do lactato cerebral é uma doença autossômica recessiva de aparecimento precoce e evolução lenta, caracterizada por disfunção cerebelar, piramidal e das colunas dorsais da medula. Ressonância magnética e espectroscopia de prótons tipicamente demonstram anormalidades na substância branca cerebral e cerebelar, com envolvimento característi-co de tratos no tronco encefálico e na medula espinhal e aumento de lactato na substância branca cerebral anormal. Relatamos três casos com achados clínicos e de neuroimagem característicos. Achados adicionais peculiares aos nossos pacientes são discutidos, como a elevação da creatina-quinase sérica e a presença de neuropatia motora distal. PALAVRAS-CHAVE: leucoencefalopatia, tronco cerebral, medula espinal, lactato.

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