Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature

Abstract

Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently it may easily be misdiagnosed as neurofibromatosis or other medical conditions. This is a case report of tuberous sclerosis in a 13-year-old Nigerian girl that was misdiagnosed as neurofibromatosis because of her cutaneous lesions. This paper discussed the case and reviewed the literature. A comprehensive medical clerkship, thorough physical examination, high index of clinical suspicion and neuroimaging investigations are required to confirm diagnosis.

Challenges in care of the child with special health care needs in a resource limited environment

“…[4] Early diagnosis thus requires a high index of suspicion, articulation of presenting features, availability and utilization of appropriate facilities for investigations. [3] Consequences of delayed diagnosis such as itinerant shopping for remedy, clinical deterioration and exposure to the risks of unorthodox medication were all observed in this child.…”

“…Ogunrin in Midwestern Nigeria reported that diagnosis was made in a girl at 13 years. [3] This delay has been attributed to the uncommon nature of the disorder and its plethora of clinical features. This is not peculiar to Tuberous Sclerosis in our environment.…”

“…[2] In Africa the first case was reported in 1967 and from then there has been case reports from West, East and North Africa. [3] Tuberous Sclerosis is characterized by adenoma sebaceum, intractable seizures, mental retardation, cognitive and behavioral abnormalities that warrant long-term special health care services is an exemplary disorder. [2] There are challenges in providing care for these children which could be overwhelming.…”

“…[2] There are challenges in providing care for these children which could be overwhelming. [1234] The aim of this study was to identify challenges of care in CSHCN using a child with Tuberous Sclerosis in a resource limited environment.…”

Tuberous sclerosis complex: A case report

“…[ 1 ] TSC is classified as a phakomatosis (neurocutaneous disorder) and which is characterized by the presence of glial cell tumors arising in the cerebral hemispheres and retina. [ 2 ] It is clinically characterized by the triad of epilepsy (EPI), intellectual disability (LOI), and adenoma sebaceum (A), therefore, encompassing these features Sherlock coined the term EPILOIA. [ 3 ]…”