Dados do Trabalho

Título

INTRACRANIAL GERMINOMA PRESENTING AS A DIENCEPHALIC SYNDROME

Apresentação dos casos

A previously healthy thirteen years old girl presents with a severe avoidant restrictive food intake disorder causing a loss of fourteen kilograms in an interval of eight months. She is admitted to a secondary hospital, under the hypothesis of altered feeding behavior due to psychiatric reasons, being subsequently transferred to a major psychiatric center in the city of São Paulo, Brazil. Further pediatric evaluation, seeking for non-psychological differential diagnoses, showed a failure-to-thrive. A neurological workup was then carried out, demonstrating a diffusely severe muscular hypotrophy, and bilateral pyramidal tract dysfunction. Cranial nerves examination showed a symmetrical peripheral constriction of visual fields, a bilateral horizontal nystagmus and bilateral paresis of lateral rectus. An urgent neurosurgical approach was pursued due to intracranial hypertension. Brain magnetic resonance imaging (MRI) exhibited multifocal expansile formations in the suprasellar and interpeduncular cisterns, in the pineal region and in the fourth ventricle. Growth hormone (GH) and adrenocorticotropic hormone (ACTH) levels were elevated. The neurosurgical team proceeded to an endoscopic brain biopsy, with anatomopathological evaluation confirming a germinoma. Immunohistochemical testing showed positive antigen results for PLAP, SALL4, CAM5.2, OCT4 and C-kit.

Discussão

The diencephalic syndrome of emaciation, originally described by A. Russell in 1951, manifests as a progressive weight loss and failure-to-thrive in an apparently alert infant. Hyperemesis, hyperalertness and nystagmus can be present but their absence cannot rule out the diagnosis. This presentation of failure-to-thrive occurs when there is an elevated GH, suggesting acquired partial resistance. Brain MRI usually demonstrates suprasellar masses involving the hypothalamus and optic chiasm.

Comentários finais

We present a rare disorder secondary to intracranial neoplasms typically located in the hypothalamic region or its vicinity. The lack of specific symptoms and latency of overt neurologic impairment can be misleading and delay the diagnosis. Although feeding disorders are commonly observed in the pediatric and adolescent populations, every professional involved in pediatric care needs to be aware of non-psychiatric causes of avoidant restrictive food intake disorders.

Referências

1. Curr Oncol. 2023 Sep 13;30(9):8401-8410.
2. Ital J Pediatr. 2022 Aug 17;48(1):147.
3. Childs Nerv Syst. 2022 Oct;38(10):2033-2035.

Palavras Chave

Intracranial germinoma; Diencephalic syndrome; Russell syndrome