Résumé
The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our patient was not diagnosed until age 13, although he had a cleft palate and presented with nasal speech and learning disturbances. He had no clinical manifestations of hypocalcemia until age 13, when he developed generalized tonic-clonic convulsions several times in that year. Laboratory tests showed hypocalcemia, hyperphosphatemia, with normo-to-low parathyroid hormone levels in the serum. Chromosome analysis with FISH revealed a deletion on the proximal portion of the long arm of chromosome 22(22q11.2). The authors herein report a case of CATCH22 syndrome who showed hypocalcemic convulsions in late childhood with a review of the literature.
Sujets)
Humains , Bras , Fente palatine , Syndrome de DiGeorge , Hyperphosphatémie , Hypocalcémie , Incapacités d'apprentissage , Hormone parathyroïdienne , Crises épileptiquesRésumé
PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus, and panhypopituitarism, before and after treatment. We reviewed the clinical features of optic gliomas, especially the endocrinologic manifestations before/after treatment. METHODS: Retrospective clinical characteristics were reviewed. Thyroid function test, combined anterior pituitary hormone test, and growth hormone provocation test were performed before and after surgical resection or radiotherapy. RESULTS: Twenty one patients (male: female 9:12, mean age, 6 yr) diagnosed by pathologic specimens were included. Initial manifestations were decreased visual acuity (47.6%), headache/vomiting (33.3%), diencephalic syndrome (28.6%), nystagmus (23.8%), strabismus (9.5%), proptosis (4.8%), and hydrocephalus (4.8%). Ninteen optic gliomas (90.5%) were in the intracranial location. The other 2 optic gliomas were confined in the orbital cavity, which were associated with neurofibromatosis-1. Endocrinologic review: There were no endocrinologic symptoms or signs in all patients before operation. But there were multiple hypothalamic-pituitary hormonal deficiencies, including growth hormone deficiency (85.7%; complete 71.4%, partial 14.3%), hypothyroidism (64.7%), diabetes insipidus (53%; persistent 41.2%, transient 11.8%), ACTH deficiency (28.6%), and sexual precocity (5.9%), postoperatively. CONCLUSION: We suggest that early-onset of tumor, especially with diencephalic syndrome, and/or intracranial involvement can be considered as a bad prognostic factor. While optic glioma is a pathologically benign tumor, it is not so clinically benign as thought, because of possible permanent hypopituitarism and diencephalic syndrome. Therefore, we have to carefully follow up the patients to look for the complications, such as hypopituitarism, of this tumor after operation.
Sujets)
Enfant , Femelle , Humains , Hormone corticotrope , Diabète insipide , Exophtalmie , Hormone de croissance , Hydrocéphalie , Hypopituitarisme , Hypothalamus , Hypothyroïdie , Nerf optique , Gliome du nerf optique , Orbite , Radiothérapie , Études rétrospectives , Strabisme , Tests de la fonction thyroïdienne , Acuité visuelleRésumé
PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus, and panhypopituitarism, before and after treatment. We reviewed the clinical features of optic gliomas, especially the endocrinologic manifestations before/after treatment. METHODS: Retrospective clinical characteristics were reviewed. Thyroid function test, combined anterior pituitary hormone test, and growth hormone provocation test were performed before and after surgical resection or radiotherapy. RESULTS: Twenty one patients (male: female 9:12, mean age, 6 yr) diagnosed by pathologic specimens were included. Initial manifestations were decreased visual acuity (47.6%), headache/vomiting (33.3%), diencephalic syndrome (28.6%), nystagmus (23.8%), strabismus (9.5%), proptosis (4.8%), and hydrocephalus (4.8%). Ninteen optic gliomas (90.5%) were in the intracranial location. The other 2 optic gliomas were confined in the orbital cavity, which were associated with neurofibromatosis-1. Endocrinologic review: There were no endocrinologic symptoms or signs in all patients before operation. But there were multiple hypothalamic-pituitary hormonal deficiencies, including growth hormone deficiency (85.7%; complete 71.4%, partial 14.3%), hypothyroidism (64.7%), diabetes insipidus (53%; persistent 41.2%, transient 11.8%), ACTH deficiency (28.6%), and sexual precocity (5.9%), postoperatively. CONCLUSION: We suggest that early-onset of tumor, especially with diencephalic syndrome, and/or intracranial involvement can be considered as a bad prognostic factor. While optic glioma is a pathologically benign tumor, it is not so clinically benign as thought, because of possible permanent hypopituitarism and diencephalic syndrome. Therefore, we have to carefully follow up the patients to look for the complications, such as hypopituitarism, of this tumor after operation.
Sujets)
Enfant , Femelle , Humains , Hormone corticotrope , Diabète insipide , Exophtalmie , Hormone de croissance , Hydrocéphalie , Hypopituitarisme , Hypothalamus , Hypothyroïdie , Nerf optique , Gliome du nerf optique , Orbite , Radiothérapie , Études rétrospectives , Strabisme , Tests de la fonction thyroïdienne , Acuité visuelleRésumé
PURPOSE:In idiopathic central precocious puberty(CPP), characterized by premature but otherwise normal puberty, the early onset of the pubertal growth spurt with increased height velocity results in premature epiphyseal closure with reduced final height. We examined the growth and growth-determining factors in female patients with CPP treated with a long-acting luteinizing hormone-releasing hormone analogue(Tryptorelin). METHODS:Ten female patients who were diagnosed as idiopathic precocious puberty were treated with Tryptorelin(0.06mg/kg, IM every 4 weeks) for 2 years. We evaluated the patients into two groups(Group A, 4 cases, predicted adult height before treatment were less than 150cm; Group B, 6 cases, predicted adult height before treatment were 150cm or greater), and analysed the growth and its determing factors. RESULTS:In total patients, the growth velocity during the second year were decreased to 4.1+/-1.9 from 5.7+/-2.2/yr during the first year(p>0.05) and no significant difference was found in predicted adult height(PAH) before and after 2 years of treatment(152.3+/-6.7 vs. 1453.9+/-6.8cm). The difference between the PAH before and after 2 years of treatment was not correlated with age, bone age, PAH, height standard deviation score(Ht SDS) before treatment, but correlated with difference between the PAH before and after 1 year of treatment(r=0.89310, P=0.0005). The mean Ht SDS for bone age in group A were significantly lower than those in group B(P<0.05). In group A, the mean PAH increased from 147.0+/-1.9 to 153.7+/-3.7cm during two years of treatment, but no difference in PAH was found in group B. So PAH were similar in two groups(154.1+/-8.7 vs. 153.7+/-3.7cm) after second year. The mean difference between bone age and chronological age decreased from 4.5+/-1.3 to 3.0+/-1.3 years in group A(P<0.05). CONCLUSION: Long-term Tryptorelin treatment is more effective in girls with idiopathic central precocious puberty, whose PAH before treatment were below 150cm. If PAH before treatment is 150 cm or greater or increase in PAH during the first year of treatment is poor, this treatment modality might be useless in terms of improved growth.
Sujets)
Adolescent , Adulte , Femelle , Humains , Hormone de libération des gonadotrophines , Lutéine , Puberté , Puberté précoceRésumé
Berardinelli lipodystrophy syndrome is a rare autosomal recessive disorder, characterized by loss of body fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, hyperlipidemia, insulin resistant diabetes, and elevated metabolic rate. The mechanism(s) responsible for these abnormalities is not known. We report a forteen-month old girl with Berardinelli Lipodystriphy Syndrome, who had signs above mentioned, with a brief review and its related literatures.