Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy.

Context: Thyroid hormone transport across the plasma membrane depends on transmembrane transport proteins, including monocarboxylate transporter 8 (MCT8). Mutations in MCT8 (or SLC16A2) lead to a severe form of X-linked psychomotor retardation, which is characterised by elevated plasma triiodothyronine (T(3)) and low/normal thyroxine (T(4)). MCT8 contributes to hormone release from the thyroid gland.

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

Aims: HNF1B-maturity-onset diabetes of the young is caused by abnormalities in the HNF1B gene encoding the transcription factor HNF-1beta. We aimed to investigate detailed clinical features and the type of HNF1B gene anomaly in five pediatric cases with HNF1B-MODY.

Methods: From a cohort of 995 children and adolescents with diabetes, we analyzed the most frequent maturity-onset diabetes of the young genes (GCK, HNF1A, HNF4A) including HNF1B sequencing and deletion analysis by quantitative Multiplex-PCR of Short Fluorescent Fragments (QMPSF) if patients were islet autoantibody-negative and had one parent with diabetes or associated extrapancreatic features or detectable C-peptide outside honeymoon phase.

Xanthogranulomatous pyelonephritis in children: diagnostic and therapeutic aspects.

Xanthogranulomatous pyelonephritis (XGP) is a rare, chronic inflammatory disease of the kidneys. It is characterized by destruction of renal parenchyma and accumulation of lipid-laden foamy macrophages. Diffuse and focal forms are known.

Spontaneous regression of a vascular tumor of the skull base--infantile hemangioendothelioma?

Extracerebral masses involving the skull base in children and adolescents are rare. We report on a 4-month-old infant who was diagnosed with a large extracerebral mass in the anterior fossa. Subtotal resection to prevent impending blindness was complicated by almost fatal bleeding.

Calvarial dermoids and epidermoids in infants and children: sonographic spectrum and follow-up.

Objective: Dermoids and epidermoids are defined as ectodermal inclusion cysts. The aim of this study was to evaluate the spontaneous natural behavior and the ultrasonographic appearance of calvarial dermoids and epidermoids.

Materials And Methods: The ultrasonographic image datasets of 100 consecutive children up to 4 years of age (52 females, 48 males; age range at first examination 1 week to 40 months, mean age 8.

Early treatment with L-thyroxine in children and adolescents with type 1 diabetes, positive thyroid antibodies, and thyroid gland enlargement.

Aim: To investigate whether early treatment with l-thyroxine may prevent deterioration of thyromegaly and progression to subclinical or clinical hypothyroidism in pediatric patients with type 1 diabetes, positive thyroid antibodies, and ultrasound abnormalities of the thyroid gland.

Methods: The development of thyroid gland volume and function in patients without L-thyroxine treatment (group A, n = 8) was assessed and compared with that in patients receiving L-thyroxine treatment (group B, n = 7) with median follow-up time of 2.0 yr (range 0.

Uncommon synovial cysts in children.

Unlabelled: Popliteal synovial cysts (Baker's cysts) are a common occurrence in children and adults. Synovial cysts in other locations and/or with atypical extension are less common and may be confounded with tumors or other medical conditions. In this article we describe the underlying disease, clinical presentation and clinical course in six children with a sudden onset of paraarticular soft tissue masses or non-specific chronic pain.

Transcranial Doppler ultrasonography in neurologically asymptomatic children and young adults with sickle cell disease.

The purpose of the study was to evaluate transcranial Doppler ultrasonography for identifying cerebrovascular disease in neurologically asymptomatic children and young adults with sickle cell disease. A total of 47 consecutive patients with sickle cell disease (28 females, 19 males; age range 8 months to 29 years, mean age 9 years 6 months) were evaluated by transcranial color and duplex Doppler ultrasonography via transtemporal and occipital (2-MHz probe) as well as by transocular (5-MHz probe) approach. Eleven vessels (middle, posterior, anterior cerebral artery, vertebral artery, ophthalmic artery on each side and basilar artery) were analyzed in each patient.

Unusual mesoblastic nephroma in a young child.

We report a 1-year 11-month-old girl demonstrating a large renal mass with a unique presentation on imaging (US, CT and plain radiography), pathology and histology. The imaging features did not correspond with a Wilms' tumour, the most commonly found renal tumour in the child of this age. The US and CT findings resembled a benign lesion with an unusually high fat content.

Testicular microlithiasis in children: sonographic features and clinical implications.

Background: The natural history of incidentally discovered testicular microlithiasis in children has not been well defined. Although a benign condition, this entity has been found to be associated with testicular malignancies.

Objective: To determine the spectrum of sonographic findings and clinical implications in children with testicular microlithiasis.