Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.

Background: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder caused by a mutation in LIM-homeodomain transcription factor 1-beta (LMX1B) and characterized by nail dystrophy, skeletal changes, glaucoma, and kidney disease with up to 30% of patients progressing to kidney failure. Autoimmune diseases, including thyroid disease, have been reported previously in patients with NPS.

Case-diagnosis/treatment: We report the case of a pediatric patient with NPS with kidney failure, hypothyroidism, and type 1 diabetes mellitus.

Severe Hypertriglyceridemia With New-Onset Type 1 Diabetes in Diabetic Ketoacidosis.

Hypertriglyceridemia is a complication in the presentation of diabetic ketoacidosis (DKA) but has been reported in the pediatric population infrequently. We report a 13-year-old female with new onset type 1 diabetes in DKA, who developed extreme hypertriglyceridemia. Our patient's case is unique as her triglyceride levels were markedly higher than those in other reports and required a longer duration of time to resolve.

Rare variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia.

A 7-year-old girl without a significant previous medical history was diagnosed with X-linked hypophosphatemic rickets (XLHR) due to a rare, most likely pathogenic, gene variant after a 4-year delayed diagnosis due to mild clinical presentation. At 2 years of age, her intoeing and femoral bowing were attributed to physiologic bowing and borderline vitamin D sufficiency, despite phosphorus not being measured. Hypophosphatemia was eventually detected after incomplete improvement of bowing and leg length discrepancy with suboptimal linear growth.

Recurrent Concurrent Diabetic Ketoacidosis and Thyroid Storm.

Diabetic ketoacidosis (DKA) and thyroid storm are serious complications of underlying disease states. Either condition can induce the other, and the co-occurrence of these conditions is uncommon. We present the case of an adolescent patient with type 1 diabetes and autoimmune hypothyroidism who developed recurrent concurrent DKA and thyroid storm twice in an eight-month period.

Pathogenicity of a glucokinase gene mutation and description of its clinical phenotype.

Glucokinase gene (GCK) mutations comprise approximately 10% of cases of maturity-onset diabetes of the young (MODY). Over 800 different mutations in GCK have been reported in the Human Gene Mutation Database, the vast majority of which result in MODY type 2. The missense mutation p.

Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature.

Background Radioactive iodine (RAI) therapy is prevalent in the treatment of Graves' disease. Adverse effects in pediatrics are not well-described. Case presentation A 13-year-old female underwent RAI therapy for Graves' disease.

Pediatric stroke as the presenting symptom of new-onset type 1 diabetes mellitus without DKA: case report and literature review.

Background Stroke and other neurologic complications are rare in pediatric type 1 diabetes mellitus (T1DM) without severe diabetic ketoacidosis (DKA) or poor glycemic control. Case presentation A previously healthy, 10-year-old female presented with acute thalamic stroke, non-acidotic new T1DM diagnosis and negative hypercoagulopathy workup. She received routine insulin therapy and aspirin, and returned to neurologic baseline within a year without stroke recurrence.

Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient.

Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience.

Background: Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and guidelines for management are lacking. We aim to characterize clinical and radiological characteristics of a cohort of pediatric patients with CDI.

Slipped capital femoral epiphysis and associated hypothyroidism. A review of the literature with two classic case examples.

Slipped capital femoral epiphysis (SCFE) is a relatively common hip disorder often seen in overweight, peripubertal children. Although the exact etiology is uncertain, it is generally accepted that underlying endocrinopathies play a role in the pathogenesis. Hypothyroidism is the endocrine disorder cited most commonly in association with SCFE, and patients often have no history of thyroid dysfunction at the time of presentation.