Osteogenesis imperfecta and cerebrospinal fluid leak: a unique presentation and treatment challenge

Revista de Medicina da UFC

Endereço:
Gerência de Ensino e Pesquisa - Universidade Federal do Ceará/Rua Coronel Nunes de Melo, S/N - Bloco dos ambulatórios (ilhas) - Andar superior - Rodolfo Teófilo
Fortaleza / CE
60430-270
Site: http://periodicos.ufc.br/revistademedicinadaufc
Telefone: (85) 3366-8590
ISSN: 24476595
Editor Chefe: Renan Magalhães Montenegro Júnior
Início Publicação: 30/11/2014
Periodicidade: Trimestral
Área de Estudo: Medicina

Osteogenesis imperfecta and cerebrospinal fluid leak: a unique presentation and treatment challenge

Ano: 2019 | Volume: 59 | Número: 4
Autores: Clara Mota Randal Pompeu, Anna Caroline Rodrigues de Souza Matos, Mirian Mota Randal Pompeu, Luis Fernando Falcão de Castro Meireles, Daniel Aguiar Dias, Erika Ferreira Gomes
Autor Correspondente: Clara Mota Randal Pompeu | [email protected]

Palavras-chave: osteogenesis imperfecta, cerebrospinal fluid, hydrocephalus, bone diseases

Resumos Cadastrados

Resumo Inglês:

Introduction: Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue that mainly manifests as bone fragility. Other signs and symptoms may be present, such as sensorineural hearing loss, cardiac malformations, and teeth alterations. Case description: 72-year-old female patient presented with left abundant spontaneous hyaline rhinorrhea, history of several bone fractures since early childhood, and a blue grayish sclera was noted. Cerebrospinal fluid (CSF) leak was diagnosed. Neuroimaging revealed lowering of the sella turcica floor, platybasia, basilar impression, left middle fossa calcified meningioma, syringobulbia, ventricular dilatation, and left ethmoidal fistula. Due to the patient’s age and clinical status, a medical approach was chosen, and treatment with acetazolamide and furosemide in low dosages, which resulted in a decrease of the rhinorrhea. Discussion: Clinical features and imaging study are often sufficient for diagnosis of OI. The neurological and cranial features in OI are varied. CSF leak is not commonly reported and might have been a consequence of bone softening and hydrocephalus. Conclusions: This case represents a treatment challenge, as the surgical results were uncertain, once bone fragility could result in the development of new leaks. Clinical treatment was chosen and resulted in a significant improvement of the symptoms.