1/39. hypercalciuria and urolithiasis in a case of costello syndrome.costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with costello syndrome who presents with hypercalciuria and urolithiasis.- - - - - - - - - - ranking = 1keywords = adolescent (Clic here for more details about this article) |
2/39. Short stature in a 46,XX male adolescent.We describe a patient with a 46,XX karyotype who was assessed because of short stature and a subnormal rate of linear growth. The patient had normal male external genitalia. Endocrinologic analysis revealed elevated levels of luteinizing hormone and follicle-stimulating hormone but an exaggerated gonadotropin response to luteinizing hormone-releasing hormone stimulation. The growth hormone response to insulin-induced hypoglycemia was also exaggerated. All sequences examined on the sex-determining region Y gene were present. The diagnosis was 46,XX male with the major manifestation of short stature.- - - - - - - - - - ranking = 4keywords = adolescent (Clic here for more details about this article) |
3/39. Clinical and therapeutic properties of Cushing's disease in childhood.Cushing's disease (CD) in adolescence and childhood is a rare pathology and has some different clinical and therapeutic characteristics than in adults. We report 3 cases treated surgically, with the diagnosis of CD. Their common complaints were short stature and obesity. Endocrinological investigations and radiological evaluation pointed out the diagnosis of CD for all children. They were operated on by the transsphenoidal route, and adenoma resection was performed. Histopathologic and immunohistochemical examination of the tissue specimens confirmed the diagnosis of CD. Long-term follow-up demonstrated weight loss and increase in height.- - - - - - - - - - ranking = 29.986080296249keywords = adolescence (Clic here for more details about this article) |
4/39. Severe hypothyroidism due to autoimmune atrophic thyroiditis--predicted target height and a plausible mechanism for sexual precocity.Autoimmune thyroiditis, the most frequent cause of acquired hypothyroidism in childhood and adolescents, is characterized by raised levels of the specific antibodies to thyroperoxidase (TPOAb) and thyroglobulin (TgAb). We report a girl aged 10 years and 9 months who presented with arrested growth and breast development (thelarche). She also exhibited myxedema of the face and legs, prominent striae on the thighs, dry, cold skin, and hypertrichosis on her back. There was no goiter, no history of thyroid pain and no family history of thyroid disease. She complained occasionally of a transient headache. The patient's height was below the 3rd percentile, while her body weight was at the 50th percentile and bone age was normal. Laboratory tests proved severe hypothyroidism (fT4 0 ng/dl, fT3 0.99 pg/ml, TSH >100 microIU/ml plus an increased titer of TPOAb). Thyroid ultrasound supported the diagnosis of thyroiditis. Pituitary PRL and FSH levels and peripheral estradiol were all elevated. L-thyroxine therapy, instituted following diagnosis, improved the growth velocity to 11 cm/year and the FSH and E2 levels were normalized to prepubertal values. Complete regression of the breast development was observed within 4 months. However, 4 months later a true (central), isosexual LHRH-dependent puberty started. The pubertal features at the time of the original diagnosis might be explained by: 1. the direct action of elevated TRH on gonadotropes to stimulate gonadotropin secretion and on lactotrophes to stimulate PRL secretion, and 2. TSH action on LH and mostly FSH receptors (homologous to TSH receptors) in the ovary, stimulating the secretion of estradiol.- - - - - - - - - - ranking = 1keywords = adolescent (Clic here for more details about this article) |
5/39. Growth failure in the child with inflammatory bowel disease.Once considered rare in pediatric practice, chronic inflammatory bowel disease (IBD) is now being recognized with increasing frequency in children of all ages. In IBD, growth failure may be the only clinical presentation; it is imperative to perform a detailed history and physical examination to search for other systemic and gastrointestinal manifestations of the disease. IBD can have a significant impact on linear growth, weight gain, and bone mineralization, and can cause delays in the onset of puberty. Delays in growth and sexual development can be early indicators of disease activity, and assessment of growth and development should be performed frequently. Nutritional therapy is important not only to correct undernutrition, but also as therapy for IBD. Delayed puberty can have a significant impact on the self-esteem of the adolescent patient and diminish final adult height. Loss of bone mineral density is especially significant during a period in which the majority of bone accretion is expected to occur. These issues present unique problems to the gastroenterologist caring for a child or adolescent with IBD and require specific types of monitoring and interventions.- - - - - - - - - - ranking = 2keywords = adolescent (Clic here for more details about this article) |
6/39. mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.OBJECTIVE: Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). Pathogenic mutations in the mevalonate kinase gene in both disorders have demonstrated a common genetic basis. Our aim was to describe the clinical picture of adolescent patients with mevalonate kinase deficiency and to expand the clinical and biochemical spectrum of mevalonate kinase deficiency, particularly with regard to HIDS. methods: We report the clinical history and biochemical findings of 3 patients with mevalonic aciduria. RESULTS: In 2 siblings with mevalonic aciduria, a 15-year-old girl and a 14-year-old boy, the phenotype shifted with age. Ataxia has become the predominant clinical manifestation, whereas the febrile attacks occur less frequently but as yet have not disappeared. Both of them show marked elevations of immunoglobulin d (IgD). Psychomotor development is retarded but not regressive. Short stature developed in both patients. Additional findings include the development of retinal dystrophy and cataracts in both of them. The third patient is a 6-year-old boy who presented at the age of 5 years with cerebellar ataxia and retinal dystrophy. He is different from all known patients with mevalonic aciduria because of the mild neurologic involvement and because he has never developed febrile crises. In addition, levels of IgD were repeatedly normal. CONCLUSION: The clinical and biochemical spectrum of patients with mevalonic aciduria is heterogeneous. Manifestations of the disease seem to be age dependent, as evident from this first report of adolescent patients. In patients who survive infancy, short stature, ataxia caused by cerebellar atrophy, and ocular involvement with retinal dystrophy become predominant findings. Recurrent febrile crises seem to diminish with increasing age and may not even be an obligatory finding. Elevation of IgD is most likely a secondary phenomenon that seems to be linked to recurrent febrile crises.- - - - - - - - - - ranking = 2keywords = adolescent (Clic here for more details about this article) |
7/39. Improved growth with growth hormone therapy in a child with glycogen storage disease Ib.In type Ib glycogen storage disease (GSD) growth is typically affected and short stature is a common feature. Reported use and effect of growth hormone (GH) therapy in children with GSD is limited. We report on the use of substitutive GH treatment in a poorly growing adolescent female with GSD type Ib. The patient's growth velocity increased from a baseline level of 2.5 cm/y to an average growth velocity during GH therapy of 8.7 cm/y. During GH therapy this patient did not demonstrate metabolic decompensation but increased levels of cholesterol and triglycerides were seen (A-1). CONCLUSION: patients with GSD may experience an improvement in growth response with GH treatment. Prior to GH therapy, treatment of hyperlipidemia associated with GSD should allow the therapy to be safely tolerated.- - - - - - - - - - ranking = 1keywords = adolescent (Clic here for more details about this article) |
8/39. An unusual case of an atypical eating disorder masquerading as a serious multi-systemic illness.An early diagnosis and multidisciplinary team approach are mandatory in the management of eating disorders. Serious organic symptoms and nutritional effects can mimic a systemic illness, particularly in those with atypical presentations. A 15-y-old adolescent male presented with poor growth, low weight, abdominal pain and yellow pigmentation. Further bizarre multi-system symptomatology resulted in a protracted admission with multiple investigations. An initial diagnosis of teratoma proved negative on abdominal laparotomy. A multidisciplinary approach followed by a feeding challenge led to the diagnosis of an eating disorder. The disorder, although more common in girls and adolescents, is increasing in incidence in both males and younger children. Conclusion: Atypical eating disorders are potentially serious and life-threatening illnesses, and paediatricians and psychologists should be aware of unusual presentations.- - - - - - - - - - ranking = 2keywords = adolescent (Clic here for more details about this article) |
9/39. Symptomatic Chiari I malformation in Kabuki syndrome.Kabuki (Niikawa-Kuroki) syndrome is associated with a characteristic facial appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain anomalies have only occasionally been described in Kabuki syndrome. Chiari type I malformation, characterized by caudal herniation of the cerebellar tonsils through the foramen magnum, has been described only infrequently in association with defined syndromes and has been reported once in association with Kabuki syndrome. We report three additional children with Kabuki syndrome who have Chiari I malformation. Two children presented with chronic headaches and the third patient presented with gait abnormalities in adolescence. The incidence of Chiari I malformation may be higher than previously reported in Kabuki syndrome since it may not be diagnosed until later in childhood, whereas most reports of Kabuki syndrome are of young children. Further, symptoms of Chiari I anomaly can be somewhat nonspecific. Thus, we suggest that Chiari type I be considered in patients with Kabuki syndrome who present with persistent headache, neck pain, or other symptoms suggestive of Chiari I anomaly.- - - - - - - - - - ranking = 29.986080296249keywords = adolescence (Clic here for more details about this article) |
10/39. charge syndrome from birth to adulthood: an individual reported on from 0 to 33 years.charge syndrome was independently reported by Hall [(1979): J Pediatr 95:395-398] and Hittner et al. [(1979): J Pediatr Ophthalmol strabismus 16:122-128] and was initially considered to be a non-random association between distinct multiple congenital anomalies. It is now considered to be a recognizable syndrome with well-characterized diagnostic criteria and a genetic pathogenesis. We report on a 33-year-old adult male with charge syndrome, with emphasis on the unique medical, behavioral, and psychological issues faced in adulthood. Characteristic facial and ear abnormalities were obvious in early childhood, and bilateral retinal colobomata, left choanal atresia, right congenital hip dislocation, and hypogonadism were diagnosed during the first year. walking was delayed due to vestibular problems, speech was impaired due to moderately severe hearing loss, and use of sign communication was limited. choanal atresia was surgically corrected in infancy, and atrial septal defect, ventricular septal defect, and patent ductus arteriosus were surgically corrected in childhood. Undescended testes were removed in adolescence, and gallstones were removed in early adulthood. puberty was delayed until hormone replacement therapy began at 15 years. Behavioral disturbances and anxiety persisted throughout childhood, adolescence, and into adulthood, often resulting from communication challenges. At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density.- - - - - - - - - - ranking = 59.972160592499keywords = adolescence (Clic here for more details about this article) |
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