Abstract
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.
Highlights
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
A 72-year-old female patient presented with left abundant spontaneous hyaline rhinorrhea, for seven months
Summary
Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue involving the extracellular matrix and manifesting with bone fragility. Such mutations result in quantitative or structural defects in collagen and increased bone turnover, and. Patient had a history of several fractures and repeated falling and was undergoing clinical assessment for pathological bone fractures. The patient’s sclera had a blue grayish color Patient’s daughter presented with blue sclera, hearing loss that was diagnosed as otosclerosis, and had a history of multiple bone fractures. Revealed a significant basilar impression, syringobulbia, important ventricular dilatation (hydrocephalus), and a left ethmoidal fistula (Figure 3). After a one-month course of medication, patient presented with significant improvements in the rhinorrhea. Computed tomography (CT) of the sinuses showed a possible bone discontinuity in the left cribriform plate, a left ethmoidal osteoma, diffuse reduction of bone density, lowering of the sella turcica’s floor, platybasia, basilar impression, and a left middle fossa calcified meningioma (Figure 2).
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