differential ddx
16 Yrs old boy...presents the following deformities.. Physical growth is less with age...Differential Dx...
Morquio Syndrome, also known as Mucopolysaccharidosis Type IV
Morquio syndrome also called mucopolysacharidosis - but classical bell shaped anterior chest is not like in Morquio syndrome. So Differential Diagnosis is 1.Klippelfiel syndrome 2.Sprengel shoulder 3Hurler's syndrome 4.Skeletal dysplasia
Morqulo Syndrome.. Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). ... This birth defect, which is autosomal recessive, is a type of lysosomal storage disorder. DD.. Congenital SED/ * Skeletal deformity** Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI) Sly Syndrome (Mucopolysaccharidosis Type VII) GM1 Gangliosidosis Mucolipidosis II
Morquio Syndrome, also known as Mucopolysaccharidosis Type IV
Consider possibility of Spondyloepiphyseal dysplasia Congenital fusion of vertebrae Xray evaluation of spine
It is case of Morquio syndrome a congenital defect and deformity grows worsen as the baby grows older. It is an extreme rare one occurs 1 in 200000. It also called mucopolysacharidosis.
RICKETS ( due to lack of vitamin D )
Morquio syndrome
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NON IMMUNE HYDROPS FETALIS. G2 A1 /ML 2 yrs /non consanguinous marriage /had regular ANC. Antenatal profile normal.scan at 7 weeks and 14 weeks normal.tiffa scan at 24 weeks diagnosed as non immune hydrops fetalis. labour induced and patient delivered a dead female baby with generalised edema,low set ears. HYDROPS FETALIS is abnormal fluid collections in fetal soft tissues and serous cavities. IMMUNE HYDROPS /ERYTHROBLASTOSIS FETALIS occurs when mother's immune system attacks the blood cells of the baby.a RH NEGATIVE mother carrying a baby of RH POSITIVE blood type may have an immune response that attacks and destroys the RH positive blood cells of the baby. NON IMMUNE HYDROPS FETALIS /NIHF is a clinical phenotype associated with a broad spectrum of causes. CAUSES OF NIHF: 1)FETAL CAUSES. *cardiac defects like -hypoplastic left /right heart. -atrioventricular septal defects. -aortic stenosis /atresia. -pulmonary stenosis /atresia. -tetralogy of fallot. -premature closure of ductus. -svt/àtrial flutter /heart block. -chromosomal abnormalities . trisomy 13, 18, 21. turner's syndrome. -skeletal dysplasia. -feto maternal hemorrhage. -hematological abnormalities. -diaphragmatic hernia. -broncho pulmonary sequestration. -congenital cystic adenomatoid malformation. -oesophageal /intestinal atresia. -Polycystic kidneys. -fetal tumours like neuroblastoma, sacrococygeal teratoma. TWINS RELATED. * TTTS /twin to Twin Transfusion syndrome. * TRAPS /twin reversed arterial perfusion sequence. GENETIC SYNDROMES. * multiple pterygium. * noonan syndrome. * cornelia de LANGE SYNDROME. * tuberous sclerosis. * myo tonic dystrophy. * neu -laxava syndrome. MATERNAL CAUSES. * anemia. * diabetes. * indomethacin use. *maternal infections like -TORCH group -Parvo virus B 19 infection (commonest ) *coxsackie viral infection. PLACENTAL /CORD CAUSES. * chorioangioma. * angiomyxoma of cord. * chorionic vein thrombosis. METABOLIC CAUSES. * mucopolysaccharidosis type VII (sly disease ) and type IV A (morquio A syndrome. * gaucher's disease. type 2 * sialidosis. * GM 1 gangliosidosis. * galactosialidosis. * Niemañn-pick disease . type C * disseminated lipogranulomatosis/farber disease. * infantile free silicone acid storage /ISSD. * mucolipidosis II (I -cell disease. fetal hydrops associated with metabolic disorders is usually severe hydrops with massive ascites, thick skin,coarse faces, contracture deformities,skeletal abnormalities, hepatosplenomegaly and renal abnormalities. the classic diagnosis of a metabolic disorder is done by measuring the level of the specific enzyme. like *beta glucuronidase deficiency in mucopolysaccharidosis type VII. * beta -galactosidase deficiency in GM 1 gangliosidosis. * histological examination of various tissues like liver, spleen, lungs, bone marrow and placenta. ULTRASOUND FEATURES. *polyhydramnios. * increased nuchal translucency. * increased placental size and thickness. * Fetal pleural /pericardial effusion. * anasarca and skin thickening. * umbilical venous dilatation. INVESTIGATIONS : are multiple. * ultrasound including arterial and venous doppler. * Fetal echocardiography. *fetal chromosome analysis. * Fetal blood sampling and intrauterine transfusions. * investigations for maternal and fetal infections. * see for alpha thalassemia. * autopsy . TREATMENT : treatment depends on the cause. * early delivery. *intra uterine fetal blood Transfusion. * removing extra fluid around the lungs /other organs. * medications to control heart failure and help the kidneys remove extra fluids. *
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