Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. S...

Mucopolysaccharidosis (MPS) VI is an inheritable lysosomal storage disorder that is often associated with severe orthopedic problems such as hip dysplasia, spinal deformities, and deformities in the skull, knees and hands. We describe the progression and management of three MPS VI cases with focus on their orthopedic problems.

Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also not...

The San Andreas Fault (SAF) is the Pacific-North American plate boundary, yet in southern California a significant portion of the relative plate motion is accommodated by the San Jacinto Fault (SJF). Here we investigate the initiation of the SJF and its interaction with the SAF in a threedimensional visco-elasto-plastic finite-element model. The model results show that the restraining bend of t...

Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.

This report describes the first known case of Mucopolysaccharidosis type IIIA presenting with respiratory symptoms and characteristic lung pathology. This case highlights under-recognized areas of systemic involvement and earlier modes of presentation in lysosomal storage disorders as well as the importance of investigating infants who have persistent tachypnea.

Bone-marrow transplantation has increased the survival of patients with mucopolysaccharidosis-I. We describe the spinal problems and their management in 12 patients with this disorder who have been followed up for a mean of 4.5 years since transplantation. High lumbar kyphosis was seen in ten patients which was associated with thoracic scoliosis in one. Isolated thoracic scoliosis was seen in a...

We analyzed placental tissue in one fetus with MPS II (iduronate sulphatase deficiency) and another with MPS VI (arylsulfatase B deficiency). Both were diagnosed prenatally, but families decided to continue pregnancies and placentas were collected at birth. We were able to demonstrate early storage of GAGs in both diseases by GAG measurement and microscopy analysis. Our results suggest that som...

Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to deficiency in α-L-iduronidase (IDUA) that results in accumulation of glycosaminoglycans (GAGs) throughout the body, causing numerous clinical defects. Intravenous administration of a γ-retroviral vector (γ-RV) with an intact long terminal repeat (LTR) reduced the clinical manifestations of MPS I, but could cause insertional m...