DISCUSSION
We described the case of a young African male diagnosed with classical MFS syndrome using the Ghent 11 nosology. The diagnosis of MFS using this criterion involves the observation and imaging of distinct ophthalmologic, musculoskeletal, and cardiovascular abnormalities.
MFS is an autosomal dominant disorder with a mutation in the FBN I gene resulting in a broad spectrum of phenotypic expressions. Typically, the condition presents with skeletal, ophthalmologic, and cardiovascular abnormalities. Due to the varying extent of phenotypic expression and rate of progression, the time of diagnosis varies and requires a high index of suspicion especially in the younger age groups.
In a study by Faivre et al, the median age at diagnosis was 6.5 years in a study that looked at 320 patients less than 18 years of age. In this study, 14 % had moderate MFS, 14% severe MFS, and 35%, had probable MFS with skeletal abnormalities, showing up as positive thumb and wrist signs (83%) and high arched palate (70%) 7
The diagnosis in childhood may be missed since most diagnostic features are age-dependent hence the Ghent 11 Criterion may have limited application in this population.
The Ghent 11 nosology for diagnosis among adults includes the detection of any of the following:
  1. Aortic root dilatation and ectopia lentis
  2. Aortic root dilatation and FBN1 mutation
  3. Aortic root dilatation and systemic abnormalities
  4. Ectopia lentis and FBN1 defect in a known 2
In LMIC the diagnosis of MFS will most likely be clinical using the Ghent 11 criterion. This is due to the general unavailability/inaccessibility of genetic testing to the majority of patients. There may therefore be a diagnostic challenge in patients who have features that are not very diagnostic 1. This is clearly demonstrated in the limited availability of published data in the age range among people of African descent.
MFS is sporadic in 25% to 30% of patients having no family history. These patients tend to present with severe manifestations of the disease and have worse outcomes 8. In this case, neither the two siblings nor the mother had any typical features of MFS.