Long-term results of GH therapy in GH-deficient children treated before 1 year of age.

Objectives: To evaluate the long-term effects of GH therapy in early diagnosed GH-deficient patients treated before 1 year of age.

Study Design: We studied all 59 patients (33 males) recorded by Association France-Hypophyse and treated with GH (0.50+/-0.

[Catch-up growth in growth hormone deficit children treated with GH since the first year of life].

Long-term effects of growth hormone (GH) treatment were studied in 59 GH deficient (GHD) children, whose treatment was started before the age of 1 year, during the period 1978-1992, under the supervision of the France-Hypophyse Association. Mean duration of treatment was 8 +/- 3.6 years.

Vitamin A deficiency and nocturnal vision in teenagers with cystic fibrosis.

Unlabelled: The aim of this study was to document plasma retinol status and nocturnal vision in ten eutrophic adolescents with cystic fibrosis (CF) receiving daily retinol supplementation. Plasma retinol, alpha and beta carotenes and retinol binding protein were measured in ten clinically stable CF patients (mean age: 14.3 years; Shwachman score: 80-100).

[Aerosol therapy and cystic fibrosis: a national survey].

Aerosol therapy in cystic fibrosis is indicated in order to administer active agents directly into the diseased organ. The practical application of this technique often remains a question of personal experience rather than rigorous and validated schemes. In order to determine the experience of those using this technique, a questionnaire was prepared by the health care centers certified by the French association against cystic fibrosis (65 centers).

Cerebrovascular disease in children under 16 years of age in the city of Dijon, France: a study of incidence and clinical features from 1985 to 1993.

Our motivation for undertaking the present survey was to determine the incidence, the distribution, and the clinical features of ischemic and hemorrhagic strokes in children under 16 years old, in a well-defined population-based study. The survey was carried out on the population of the City of Dijon (150,000 inhibitants) from January 1, 1985 to December 31, 1993, collecting prospectively both in adulthood and in childhood (23,877 resident children). Diagnosis of stroke was established on the basis of clinical features and the mechanism was identified by CT scan from 1985 to 1987, and by CT scan and magnetic resonance imaging from 1987 to 1993.

Late thalamic atrophy in infarction of the middle cerebral artery territory in neonates. A prospective clinical and radiological study in four children.

We report four cases of progressive thalamic atrophy following ipsilateral cerebral infarction in the territory of the middle cerebral artery in neonates, with prospective radiological and clinical follow-up. This type of atrophy appears within 6 months after the onset of cerebral infarction. In the short term, this atrophy has no action on sensory and memory function and/or on sensory evoked potentials.

A phase II study of recombinant human granulocyte-colony stimulating factor (rHuG-CSF, lenograstim) in the treatment of agranulocytosis in children.

The present study evaluated the clinical efficacity and tolerability of the subcutaneous (SC) administration of lenograstim, a glycosylated form of rHuG-CSF identical to human G-CSF, in the treatment of congenital agranulocytosis. Assessment criteria included neutrophil response and response stability, incidence and severity of infection and gingivostomatitis and quality of life. Lenograstim, at induction dosages of 5 (n = 9), 10 (n = 2) or 20 (n = 1) microgram/kg/day SC, produced neutrophil recovery in all of 12 children with congenital agranulocytosis.

Study of final height in Turner's syndrome: ethnic and genetic influences.

In understanding Turner's syndrome, spontaneous adult height is a prerequisite for an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136-147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a large number of spontaneous adult heights (n = 216).

[Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature].

A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype.

[Discovery, in neonatal screening, of 2 families carrying a syndrome of generalized resistance to thyroid hormones].

The syndrome of generalized resistance to thyroid hormones is being increasingly diagnosed, albeit often belatedly. In the two families described herein the diagnosis was established when moderately elevated thyrotropin levels were found upon neonatal screening of a family member. The family studies identified other affected members with a pattern indicating autosomal dominant inheritance.

[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies].

Prenatal treatment based on administration of dexamethasone to the mother during pregnancy was initiated early during nine pregnancies with a high risk of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The purpose of this treatment was to prevent fetal virilization by reducing production of androgens by the adrenal glands. Prenatal diagnosis was achieved by comparing amniotic fluid cell HLA genotypes and more recently by subjecting trophoblasts to molecular genetic studies.

[Lissencephaly. Clinical, electroencephalographic and radiological aspects].

We report 2 cases of lissencephaly and review the cardinal symptoms: microcephalia, mental retardation, pyramidal syndrome and generalized epilepsy. CT-Scan and MRI show the anatomical abnormalities of this malformation: microcephalia, smooth cortex reducing the surface of white matter and lack of sulci and gyri. The fact that the myelin is normal on MRI suggests that this major disorder of neuronal migration does not come from radial glial fibers.

New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.

Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia.

[Dopa-sensitive muscular dystonia. Segawa's syndrome. A case report].

A four-year-old girl developed difficulty in walking due to dystonia of the right then left foot, rest tremor in both hands, and rigidity. These symptoms worsened upon exertion and in the evening and were remarkably responsive to L. dopa, suggesting the diagnosis of fluctuating muscular dystonia or Segawa syndrome.

[Effects of callosotomy in the treatment of intractable epilepsies in children on psychiatric disorders].

Two children, 13 and 14 years old, presented an intractable epilepsy of Lennox-Gastaut. In front of dangerous tonic and atonic epileptic crisis, a corpus callosotomy was performed. Corpus callosotomy is becoming a more widely used procedure in the treatment of intractable epilepsy as Lennox-Gastaut syndrome, or frontal epilepsy.

[Difficulties in diagnosis of frontal syndrome in epileptic children: clinical, diagnostic, physiopathological aspects. Apropos of 6 cases].

The authors report 6 cases of acute frontal syndrome following severe seizures of frontal origin. The study of the 6 cases shows the place of disorders in affectivity, behavior, judgement and motor activity; such features changing over time. The relationship between the frontal syndrome and epilepsy is suggested by the fact that the frontal syndrome appears after an increased frequency of frontal seizures, with prolonged discharges of generalized or frontal spikes.

[Vertex spikes in newborn infants in acute cerebral anoxia. Prognostic value].

The authors report 10 cases of newborns with neonatal hypoxic encephalopathy and presence of spikes in the vertex area on EEG. Evolution was characterized by the onset of a spastic paraparesy with frontal atrophy on CT scan examination and disappearance of the spikes after 2 months of age. This graphic pattern is usually absent in neonatal anoxic encephalopathy.

[Multiple sclerosis in children. Impact of memory disorders].

Three cases of multiple sclerosis, characterized by disorders of superior functions such as memory loss, either isolated (1 case) or as part of a frontal syndrome (2 cases) are reported. The importance of these disorders, often presenting as the main symptoms, their good prognosis and their rarity in adulthood are underlined. From a pathophysiologic point of view, the authors discuss the role of the frontal, near the limbic area, localization of the plaques.

[Apert's syndrome with polymetatarsia].

Three cases of acrocephalosyndactyly with duplication of the first toe and presence of six well-individualized metatarsals are reported. This type of polysyndactyly should suggest the diagnosis of Carpenter syndrome, which is inherited on a recessive autosomal basis. However, in the three patients reported here, the facial dysmorphism was distinct from that seen in Carpenter syndrome and the syndactyly was more marked.

[Mental development in Duchenne muscular dystrophy. Correlation of data of the brain scanner].

In an investigation of 15 patients with Duchenne muscular dystrophy, the authors found mental retardation in all cases. In addition, CT scan showed a cortical atrophy after the age of 10 years. This finding suggests that a cerebral degenerative process is present in cases of Duchenne muscular dystrophy.

[Identification of temporal epilepsy in children: contribution of sphenoidal electrodes].

The authors have evaluated the indications, method and results of utilising sphenoidal electrodes in epilepsy. This method makes it possible to study the hippocampal area which cannot be studied by extra-cranial electrodes. It also localizes in the temporal lobe complex seizures without investigation by an electroencephalogram, or with a non-specific electroencephalographic picture.

Hemiballismus revealing multiple sclerosis in an infant.

The authors report a case of a 15-month-old infant who presented a left hemiballismus associated with left Marcus-Gunn pupil, and retrobulbar optic neuritis, which disappeared spontaneously in 7 days. Six weeks later, the infant experienced a mild paraparesis with a palsy of the left sixth cranial nerve, which disappeared following steroid therapy. Evoked visual potentials elicited abnormal latencies; cerebrospinal fluid (CSF) showed a rise in white cells and oligoclonal bands.

[Advantages of a single daily dose of sodium valproate in the child].

This study was aimed at testing the efficacy and innocuousness of a single dose of sodium valproate (SV) for the treatment of epilepsy, as compared with 3 daily doses. It was tested on 35 children, 5 to 15 years of age, presenting with the idiopathic form of generalized epilepsy. At the end of one year of treatment with 20 mg/kg/day of SV in 3 daily doses, the children were given a single dose at 8 PM daily.