Delayed Presentation of A Neurodevelopmental Anomaly – A case report of a 43 year old Nigerian Male with Chiari Type 1 Malformation.

  • I Onwuekwe
  • O Ekenze
  • B Ezeala-Adikaibe
Keywords: Neurodevelopmental Anomaly, Delayed Presentation, Case Report


Background: Congenital neurodevelopm-ental anomalies by nature are in most cases apparent at birth or present shortly after in childhood. The abnormalities at the cranio- cervical junction are not exempt. The Chiari malformations (types 1 – 4) are a group of such disorders. Though with variable components, they are known to present either at birth / early life or in adulthood. It is important that early diagnosis be made because of the severe and frequently life threatening nature of the anomalies. Aim: This paper presents the unusual case of a 43 year old Nigerian man, a twin, presenting to the clinic with Chiari type 1 malformation the features of which were made manifest only in middle age and had been managed as a chronic headache syndrome. Materials and method: The clinical features of the patient are presented together with relevant results of investigations including magnetic resonance imaging. Careful literature search was made using library and internet sources. Results: A 43 year old Nigerian male, a stadium manager, presented to the medical clinic with four years history of headache, paraesthesias, dysphagia, vertigo and gait instability with an episode of syncope. He had received medical attention from various centres without relief. A past medical history of bronchial asthma and gastro-oesophageal reflux disease was elicited. He had an unremarkable childhood history though his twin brother died few months after birth of an unknown cause. Physical examination revealed an alert and well nourished man with normal cognition. There was no nuchal rigidity and the cranial nerves were intact. No papilloedema on fundoscopy. His motor system examination was unremarkable except for areflexia in the upper limbs. Sensations were grossly intact but he had a sensory ataxia on standing. Other systems were normal. Plain radiographs of the neck were equivocal for cervical spondylosis. Brain CT scan was normal as was the EEG while a brain and spinal MRI study revealed a Chiari type 1 malformation with hydromyelia. Symptomatic treatment was offered to the patient till decompressive surgery was successfully done. Conclusion: This case report highlights the need for comprehensive neurological evaluation of patients presenting with chronic head and neck pain. The availability of and access to modern neuroimaging modalities will go a long way in detecting hitherto underdiagnosed neurodevelopmental disorders especially in Africa.

Keywords: Neurodevelopmental Anomaly, Delayed Presentation, Case Report

Journal of College of Medicine Vol. 13 (1) 2008: pp. 53-57

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eISSN: 1118-2601