Dados do Trabalho

Título

PONTINE TEGMENTAL CAP DYSPLASIA: TWO CASE REPORTS OF A RARE HINDBRAIN MALFORMATION

Apresentação dos casos

Case 1: a 5-year-old girl began follow-up at the Pediatric Neurology service of a quaternary hospital for investigation of hearing loss. She was the first child of non-consanguineous parents, born from an uncomplicated pregnancy and delivery. Newborn hearing screening revealed bilateral hearing loss. She exhibited global developmental delay, particularly in cognitive functions, and showed signs of intellectual disability. There were no recurrent respiratory infections, but she had difficulty with solid foods. Examination revealed right-sided peripheral facial paralysis and agenesis of the auricle on the same side. Cranial MRI showed brainstem malformations consistent with pontine tegmental cap dysplasia.

Case 2: a 10-year-old patient began follow-up with pediatric neurology due to behavioral changes and developmental delay, receiving a diagnosis of intellectual disability and autism spectrum disorder. She also had hearing impairment and reduced corneal sensitivity, with several previous corneal transplants. Additionally, she had axonal sensory polyneuropathy in the lower limbs, a thyroglossal duct cyst, and severe sleep apnea. Other affected systems included vertebral morphological changes and endocrine issues due to amenorrhea. Her family history included an adult brother who cannot speak. Neurological examination revealed various dysmorphic features in the cranium, face, and limbs. MRI showed brainstem malformations consistent with pontine tegmental cap dysplasia. The patient is under geneticist follow-up, awaiting exome sequencing, but Array analysis has indicated a variant of uncertain significance (VUS).

Discussão

Pontine tegmental cap dysplasia is a rare brainstem malformation first described in 2007, with around 50 cases reported in the literature. It results from abnormal neuronal migration during embryogenesis, with no defined etiology. Diagnosis is based on MRI findings, including elongated and laterally displaced superior cerebellar peduncles, resembling a “molar tooth” sign; a dysplastic pons with volumetric reduction, particularly in the ventral region, showing prominence on its posterior face extending into the fourth ventricle ("cap"); and cerebellar hypoplasia, mainly of the vermis.

Comentários finais

This report adds two cases to the literature. Special attention is given to the second case due to previously unreported manifestations, including peripheral polyneuropathy and endocrine system involvement.

Referências

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Palavras Chave

Pontine tegmental cap dysplasia; hindbrain malformation; abnormal neuronal migration