|
Indian Pediatr 2019;56: 701 |
|
A Blue Eyed Girl with
Hyperactivity: Look in to the Eyes and Heart!
|
Indar Kumar Sharawat 1,
Arun Kumar2 and
Lesa Dawman3
From Departments of 1Pediatrics and 2Oral
health, PGIMER Satellite Centre, Una, Himachal Pradesh; and 3Department
of Pediatrics, PGIMER, Chandigarh; India.
Email: 3
[email protected]
|
A 3-year-old girl presented with difficulty in running and slowly
progressive deformity of the back. On examination, she was hyperactive,
had mild gross motor delay, normal head circumference, increased
arm-span to height ratio (1.10), blue sclera, lenticular dislocation,
downslanting palpebral fissure, malar hypoplasia (Fig. 1), pectus
carinatum, pansystolic murmur, scoliosis, arachnodactyly (Fig. 2),
joint hypermobility and pes planus. X-ray spine showed thoraco-lumbar
scoliosis and 2D-echo was suggestive of aortic root dilatation and
aortic regurgitation. Based on revised Ghent nosology, a diagnosis of
Marfan syndrome was concluded.
|
Fig. 1 Clinical photographs of
the child showing blue sclera, downslanting palpebral fissure,
hypoplastic maxilla and supraorbital ridge (a), and thoraco-lumbar
scoliosis (b).
|
|
Fig. 2 Photographs of the hand
showing arachnodactyly (a), and thumb sign (b).
|
Marfan syndrome (MS) is an autosomal dominant
connective tissue disorder, due to mutation in gene encoding for
Fibrillin-1. MS is multisystem disorder affecting eyes, skeleton, lung,
skin, cardiovascular and nervous system. Every individual with MS do not
have all the clinical manifestations of the condition. According to the
revised Ghent criteria, aortic root aneurysm and ectopia lentis are the
cardinal features and is sufficient for the diagnosis of MS even in the
absence of family history. Central nervous system features are dural
ectasia, lumbo-sacral meningocele, enlarged cisterna magna,
hyperactivity and specific learning disability. The differential
diagnosis of blue sclera includes Ehler Danlos syndrome, Van der Heave
syndrome, Osteogenesis imperfecta, Hallerman Strieff syndrome,
Incontinentia pigmenti, brittle cornea syndrome, and rarely with iron
deficiency anaemia. Differential diagnosis of marfanoid phenotype is
Lujan-Fryns syndrome, Shprintzen-Goldberg syndrome, Homocystinuria,
Beals syndrome and MASS (myopia, mitral valve prolapse,
aortic dilatation, skin involvement, skeletal
involvement) syndrome. Management of the patients with MS is complex and
requires a multidisciplinary approach with regular cardiac and ocular
surveillance.
|
|
|
|