A neonate with mucolipidosis II and transient secondary hyperparathyroidism.

Background Mucolipidosis II α/β (ML II) is an autosomal recessive disease associated with the abnormality of lysosomal enzyme trafficking. Case presentation We present an unusual patient with: (a) marked skeletal anomalies with secondary hyperparathyroidism; (b) serum intact parathyroid hormone level normalized by 7 weeks but abnormally elevated serum alkaline phosphate persisted; and (c) two mutations identified in the GNPTAB gene. One mutation, c.

Vitamin D status among preterm infants with cholestasis and metabolic bone disease.

Background: Metabolic bone disease of prematurity (MBD) is a common problem among preterm infants. Our previous study identified cholestasis as an important risk factor for the development of MBD. We conducted this study to determine the vitamin D status in preterm infants with MBD and cholestasis.

Risk factors of metabolic bone disease of prematurity.

Objective: To identify the factors that increase risk of metabolic bone disease of prematurity (MBD).

Study Design: A retrospective case-control study of infants born between January 2013-April 2014 with gestation age <30weeks and birth weight <1000g. MBD was defined as serum alkaline phosphatase above 500U/L and characteristic radiographic changes.

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome .

Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor.

Childhood hypophosphatasia with homozygous mutation of ALPL.

Objective: To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia.

Methods: Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented.

Results: A 13-year-old male presented with chronic left knee pain.