10 yr old child ...came with .c/o delayed developmental mile stone and ..bluring of vision(graduallly)...approach ...and posibilities.

12 yr male child presented to emergency with respiratory distress. child was having short stature ,dysmorphic facies, hyperextensible joint , bowlegs , pigeon shape chest and gross and fine motor delay as speech was normal differential please

4 years male child second issue product of non consanguineous marriage first female sib OK.This child was operated for INGUINAL HERNIA BOTH SIDES at 2 year of age , NOW presents for developmental delay and dysmorphic features....EXAMINATION reveals weight 14 kgs , Height 92 cms, Head circumference 52 cms, Arm span 95 cms , US / LS ratio 1.09:1 .....AND MACROCEPHALY with AP Diameter increased , SHORT NECK , BROAD STUBBY NOSE , SHORT STUBBY HANDS, UMBLICAL HERNIA , MILD SPLEEN COARSE SKIN ....with photos and X Rays attached ......COMMENTS ....

ABC OF : HUNTER SYNDROME (MPS II) MUCOPOLYSACCHARIDOSIS etc. MAY BE HELPFUL. *** ALTERNATE NAMES : Hunter syndrome / IDS deficiency / Iduronate 2-sulfatase deficiency / MPS II / MPS2....... *** HUNTER SYNDROME, or mucopolysaccharidosis II (MPS II), is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). The accumulated substrates in Hunter syndrome are heparan sulfate and dermatan sulfate....... The syndrome has X-linked recessive inheritance....... *** CLINICAL FEATURES :- Cardiac disease Coarse facies Corneal clouding Developmental delays Dwarfism Dysostosis Hepatosplenomegaly Hernias IDS Mental retardation Mucopolysaccharidosis Optic atrophy Pigmentary retinopathy....... *** CLINICAL CHARACTERISTICS :- OCULAR FEATURES :-  * CORNEAL CLOUDING may be noted as early as 6 months of age but is usually absent. When present it is milder than in some other forms of mucopolysaccharidosis.   A pigmentary retinopathy with variable severity is often present.  The disc may be elevated and appears swollen.  Secondary optic atrophy may be seen in long standing cases. SYSTEMIC FEATURES :-  * Mild to severe DEVELOPMENTAL DELAYS are common and MENTAL RETARDATION has been reported IN SOME cases.  There is OFTEN 'PEBBLING' OF THE SKIN OVER THE NECK AND CHEST.   * JOINT STIFFNESS, SHORT STATURE, and SKELETAL DEFORMITIES are common.    * Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.  * Hepatosplenomegaly, hearing loss, hernias, and carpal tunnel syndrome are OFTEN PRESENT.   * The skull is large with a J-shaped sella, the vertebral bodies are hypoplastic anteriorly, the pelvis and femoral heads are hypoplastic and the diaphyses are expanded. ** A SEVERE FORM, TYPE A, has its ONSET in the first TWO TO FOUR YEARS OF LIFE, with more RAPID PROGRESSION AND DEATH commonly by adolescence.   Many patients have OBSTRUCTIVE PULMONARY DISEASE and HEART FAILURE.   ** The IDS deficiency is similar to that of TYPE B which is LESS SEVERE and compatible with life into the 7th decade.  Intelligence is often normal in type B. GENETICS :- Hunter syndrome, or MPS II, is one of seven lysosomal enzyme deficiencies responsible for the degradation of mucopolysaccharides, and the only one known to be X-LINKED (Xq28).  *** The mutation in IDS leads to a deficiency of iduronate sulfatase resulting in accumulation of dermatan and heparin sulfate.  Rare affected females may have chromosomal deletions instead of a simple mutation in IDS. TREATMENT :- VARIOUS THERAPIES ARE UNDER DEVELOPMENT including enzyme replacement, gene transfers, and bone marrow transplantation.  *** Human iduronate-2-sulfatase (Idursulfase) has been used with encouraging signs but it is too early to determine the long term effectiveness. ***** THERE IS NO CURE BUT treatments such as enzyme replacement THERAPIES CAN HELP make the disease more manageable. *** On July 24, 2006, the FDA granted marketing approval forELAPRASE (idursulfase), the first FDA approved enzyme replacement therapy for the treatment for MPS II, also known as Hunter syndrome....... ***** The LIFE EXPECTANCY of these individuals is 10 TO 20 YEARS. Individuals with mild MPS II also have a shortened lifespan, but they typically LIVE INTO ADULTHOOD and their intelligence is not affected. HEART DISEASE and AIRWAY OBSTRUCTION are MAJOR CAUSES OF DEATH in people with both types of MPS II.......

A boy with short stature having these radiological changes.