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

  • Clara Mota Randal Pompeu Hospital Universitário Walter Cantídio (HUWC), Universidade Federal do Ceará (UFC)
  • Anna Caroline Rodrigues de Souza Matos Universidade Federal do Ceará (UFC)
  • Mirian Mota Randal Pompeu Universidade de Fortaleza (UNIFOR)
  • Luis Fernando Falcão de Castro Meireles Universidade de Fortaleza (UNIFOR)
  • Daniel Aguiar Dias Hospital Universitário Walter Cantídio (HUWC)
  • Erika Ferreira Gomes Hospital Universitário Walter Cantídio (HUWC)
Palavras-chave: Osteogenesis Imperfecta, Cerebrospinal fluid, Hydrocephalus, Bone diseases


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.

Biografia do Autor

Clara Mota Randal Pompeu, Hospital Universitário Walter Cantídio (HUWC), Universidade Federal do Ceará (UFC)

Médica residente do terceiro ano de Otorrinolaringologia do Hospital Universitário Walter Cantídio, da Universidade Federal do Ceará.