Marfan Syndrome: The Case of Joey Jones

Case Report #1

Joey Jones, a 14-year-old African American child who just seems too tall, is referred to genetic clinic. A physical exam revealed the following parameters and features:

Height = 6 ft, 4 in

Weight = 125 lb

Head circumference = 54 cm

Arm span = 85 in

Upper and lower limbs: Joint laxity and arachnodactyly

Chest: Pectus excavatum

Heart: Soft systolic murmur at the apex

Abdomen: Soft, no hepatosplenomegaly, no masses

An ophthalmologic evaluation showed ectopia lentis and myopia. A cardiologic examination revealed a MVP.

His father was 6 feet, 8 inches tall and died suddenly last year in this 30s. An autopsy showed ruptured aortic aneurysm. A paternal aunt is tall and myopic. Joey’s younger brother is also quite tall for his age.

DIAGNOSIS: The diagnosis for this patient is Marfan Syndrome (MFS).

EVIDENCE FOR SUPPORT: The patient does not have enough features to be diagnosed with Marfan syndrome based on the diagnostic criteria for this condition [The revised Ghent nosology for the Marfan syndrome]. However, the patient fits the diagnostic criteria for Ectopia Lentis Syndrome (ELS). The literature shows that a diagnosis of ELS and the presence of a personal or a family history of aortic aneurysm (which the patient’s father suffered from) is adequate to convert this diagnosis of ELS to Marfan syndrome.

Since the patient has not been clinically diagnosed with MFS, it should be noted that many symptoms of this condition manifest with an increase in age. As the patient is only 14 years old, he/she should be closely monitored to identify any emerging symptoms. Presence of Aortic dissection (an essential criteria for diagnosis of MFS) rarely occurs in childhood.

Further evidence that supports the presence of...

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...ions:

1. Developmental assessment at periodic intervals.

2. Periodic ECG and Holter monitoring to check for long QT interval

3. Assessment of gastrointestinal issues

4. Medical genetics consultation

5. Avoidance of medication that prolongs the QT interval.

The following treatment measures are recommended for an individual diagnosed with MECP2-related conditions:

1. Individualized treatments depending on the patient’s needs.

2. Psychological support for the family

3. A pediatric neurologist experienced with Rett Syndrome should provide treatment for seizures.

REFERENCES:

1. Christodoulou, J. (2012, June 28). MECP2-Related Disorders. MECP2-Related Disorders. Retrieved April 21, 2014, from http://www.ncbi.nlm.nih.gov/books/NBK1497/#rett.REF.neul.2010.944

2. Percy, A. K. (). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944-950.