A case of diabetes mellitus associated with Rett syndrome

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.     

Type 1 diabetes mellitus in a 3 1/2 year-old girl with Turner's syndrome

Turner's syndrome is associated with autoimmune disorders. Autoimmune endocrinopathy in Turner's syndrome seems to be limited to autoimmune thyroiditis. A small number of patients with Turner's syndrome has also been associated with celiac disease, inflammatory bowel disease and juvenile rheumatoid arthritis. Type 1 diabetes mellitus in Turner's syndrome has been rarely reported. We present here the youngest patient with Turner's syndrome who developed type 1 diabetes mellitus. At the age of 3.5 years she was hospitalized with diabetic ketoacidosis. Anti-islet cell and anti-insulin antibodies were positive and C-peptide level was low. When she was investigated for recurrent urinary tract infections, horseshoe kidney was detected by ultrasonography. Karyotype analysis revealed 45,XO. She has been followed for 2 years with an insulin dose of 0.9 U/kg per day. The prevalence of type 1 diabetes mellitus associated with Turner's syndrome is still unknown.     

Type 1 diabetes mellitus with ketoacidosis in infancy

Type 1 diabetes mellitus is considered a common form of diabetes mellitus in young people. Type 1 diabetes in infants is rare. However, the condition is rare in infants. Type 1 diabetes has not been reported in the literature in 45 days old child of an Indian population. Type 1 diabetes typically begins between the ages of 7 and 13 years, but 1–3% of patients are under 1 year of age. This communication describes a case of type 1 diabetes in a 45 days old male child which presented as diabetic ketoacidosis. It was effectively managed with continuous intravenous regular insulin infusion. The present report is made because of the rarity of the condition in the early age group of Indian children.     

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end‐stage renal disease until the age of 5 years.     

Encephalopathy associated with steroid treated nephrotic syndrome

Four children with nephrotic syndrome convulsed and became comatose during steroid therapy. The attacks were associated with hypokalemia and occurred around the time of diuresis. The blood pressure readings were constant in two patients and transiently increased in the other two during the convulsions. All four patients had poorly controlled proteinuria more than one month before the attacks. Various factors including hypertension with secondary cerebral vasoconstriction, hypercoagulable state leading to cerebral microthrombosis and steroid therapy may have contributed to the problem. It is suggested that monitoring patients with electroencephalogram during steroid therapy in long-standing nephrotic states before diuresis may be useful. Hypokalemia should be taken as an ominous sign.     

Congenital nephrotic syndrome associated with congenital toxoplasmosis

The authors report the case of a 1 month-old infant presenting with congenital toxoplasmosis associated with nephrotic syndrome and microscopic hematuria. Percutaneous renal biopsy showed a diffuse mild increase in mesangial cells and matrix, but immunofluorescence was negative. Electron microscopy revealed the presence of extensive fusion of foot processes. A review of the nephropathy of congenital toxoplasmosis is presented. Outcome seems to be favorable under steroid therapy. The pathophysiology of nephropathy is discussed, as well as the relationships or coincidence between congenital toxoplasmosis and nephrotic syndrome.     

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

Immune dysregulation, polyendocrinopathy, enteropathy, and X‐linked (IPEX) syndrome is an autoimmune disorder caused by the dysfunction of FOXP3, which leads to regulatory T‐(Treg) cell dysfunction and subsequently autoimmunity including type 1 diabetes mellitus (T1D). Presently, allogeneic hematopoietic stem cell transplantation (HSCT) is a potential curative therapy for IPEX syndrome, but not for T1D. Generally, after complete loss of pancreatic β‐cells, HSCT cannot improve the prognosis of T1D. Here, we report the case of a 16‐year‐old adolescent with late‐onset of FOXP3 R347H mutation associated IPEX syndrome with T1D, where insulin dependency was ameliorated following HSCT. This patient with insulin‐dependent diabetes mellitus required insulin dosage of 1.28 U/kg/day for 1 month before HSCT. Although the results of glucose homeostasis before HSCT revealed impaired insulin secretion and low ΔC‐peptide immunoreactivity (CPR, 1.0 ng/mL), the patient withdrew insulin infusion and remained euglycemic at 15 months after HSCT, and had normal β‐cell function with improved ΔCPR (3.4 ng/mL) at 20 months after HSCT. The present case suggests that HSCT for T1D‐associated IPEX syndrome improves Treg deficiency and prevents elimination of β‐cells. We speculate that the period from the onset of T1D to HSCT could affect the therapeutic efficacy for T1D with IPEX, and early intervention with HSCT before or immediately after the onset of DM can rescue β‐cells and remit T1D completely. Our study elaborates not only the therapeutic strategy for T1D with IPEX, but also the pathogenic mechanism in general T1D.     

Bilateral Carpal tunnel syndrome with type 1 diabetes mellitus in childhood

The differences between diabetic mono- or polyneuropathy and entrapment neuropathy are most important with respect to choosing treatment alternatives in pediatric patients. A 7-year-old girl with type 1 diabetes mellitus was admitted to our clinic with a complaint of bilateral weakness in her hands. Her clinical findings and electromyography study revealed an entrapment neuropathy of the median nerve at the wrist. She underwent operation by open carpal tunnel release. All symptoms resolved within 6 months after the operation. Carpal tunnel syndrome, especially bilateral, is very rare in childhood and it can be treated surgically.