A child born normal, at 1year shows enlarged tongue, coarse facies, prominent forehead, flat face and depressed nasal bridge, with an enlarged spleen and liver, is suffering from:
Mucopolysaccharidoses
Mucopolysaccharidoses (MPS) result from abnormal degradation of glycosaminoglycans such as dermatan sulfate, keratan sulfate, heparan sulfate, and chondroitin sulfate resulting in organ accumulation and eventual dysfunction.
The mode of transmission is autosomal recessive except for MPS II, which is X-linked. In general, MPS are progressive disorders, characterized by the involvement of multiple organs, including the
brain, liver, spleen, heart, and blood vessels; many are associated with coarse facial features, clouding of the cornea, and mental retardation.
Hand Schuller Christian disease.
Fabrys disease.
Hurler syndrome.
Hypothyroidism.