RESUMO
BACKGROUND: Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up. OBSERVATIONS: A 20-year-old female with HCS and progressive symptomatic BI, initially managed with posterior fossa decompression and occipital to cervical fusion, subsequently required cranial vault expansion due to symptomatic shifting of her cranium secondary to POCS. This custom construct provided long-term stabilization and neurological improvement over a follow-up duration of 9.5 years. A literature review performed revealed three other cases of surgical intervention for BI in patients with HCS and clinicopathological characteristics of each case was compared to the present illustrative case. LESSONS: POCSs in patients with BI complicate traditional surgical approaches, necessitating more invasive techniques to secure all mobile cranial parts for optimal outcomes. Using this cranial vault suspension and fusion technique results in lasting neurological improvement and construct stability.
RESUMO
A Síndrome da Serpentina e uma cognição rara, com manifestações faciais e esqueléticas características. Na literatura especializada, encontra-se descrita como possível manifestação audiológica a perda auditiva neurossensorial. No entanto, dados referentes ao sistema estomatognático, linguagem e cognição não foram encontrados. O objetivo deste estudo foi descrever as características encontradas em avaliação fonoaudiológica de uma paciente com Síndrome da Serpentina, atendida no Curso de Fonoaudiologia da Faculdade de Medicina da Universidade de São Paulo. A avaliação fonoaudiol6gica constou de anamnese, avaliação de linguagem e cognição, sistema estomatognático e avaliação audiológica. Os resultados obtidos revelaram alterações de linguagem e cognição, de sistema estomatognático e perda auditiva mista de grau moderado na orelha direita, com piora dos limiares de audibilidade nas freqüências agudas e perda auditiva de grau profundo na orelha esquerda. Embora os resultados não venham ao encontro daqueles descritos na literatura, ressaltamos a importância de investigação fonoaudiol6gica mais minuciosa em casos sindrómicos que apresentem alterações morfofuncionais envolvendo estruturas orofaciais.
The Serpentine Fibula-Polycystic Syndrome is a rare condition, with characteristic facial and skeletal manifestations. Specialized literature describes the sensorineural hearing loss as a possible audiologic manifestation of this syndrome, but data regarding stomatognathic system, language and cognition are not found. The aim of this study was to describe the characteristics found in the speech-language and hearing evaluation of a child with diagnosis of Serpentine Fibula-Polycystic Syndrome who received Speech-Language Pathology therapy at the Speech-Language and Hearing Course of the Medicine School of University of Sao Paulo. Speech-language and hearing evaluation consisted of anamnesis, language, cognitive, stomatognathic system and audiologic assessments. Data showed language and cognitive deficits, stomatognathic system alterations, mixed moderate hearing loss in the right ear, with worse audibility thresholds at higher frequencies, and profound hearing loss in the left ear. Even though the results have not corroborated data found in literature, it is emphasized the importance of a detailed speech-language and hearing evaluation in syndromic cases that present structural and function alterations involving oral and facial structures.
