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+/-0.15 IU/kg (S.D.) per week) before 1 year of age. Clinical presentation and growth parameters under GH treatment were analyzed. RESULTS: Neonatal manifestations of hypopituitarism were frequent: hypoglycemia (n=50), jaundice (n=25) and micropenis (n=17/33). Although birth length was moderately reduced (-0.9+/-1.4), growth retardation at diagnosis (5.8+/-3.8 months) was severe (-3.5+/-1.9 standard deviation scores (SDS)). Fifty patients (85%) had thyrotropin and/or corticotropin deficiency. After a mean duration of GH therapy of 8.0+/-3.6 years, change in height SDS was +3.11+/-2.06 S.D., exceeding 4 SDS in 19 patients. Only 9 patients (15%) did not reach a height of -2 S.D. for chronological age and 20 patients (34%) exceeded their target height. Pretreatment height SDS was independently associated with total catch-up growth. CONCLUSION: Conventional doses of GH allow normalization of height in patients with early GH deficiency and treatment.

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. When a hemorrhagic stroke was identified, a cerebral arteriogram and an investigation of the coagulation factors were performed. When an ischemic stroke was identified, the following were performed: an ultrasound examination of the cervical arteries, a cerebral arteriogram, a lumbar puncture, an investigation of the coagulation factors and lipid status, a measurement of homocysteine in the plasma and the urine, an electrocardiogram (EKG), a Holter procedure, and a cardiac echography. During the 9 full calendar years of this study we observed 28 stroke patients from a population of 23,877 resident children. There were 17 cases of ischemic stroke, representing some 61% percent of the total, as well as 11 cases of hemorrhagic stroke, 39% percent of the total. The average annual incidence rate was 13.02/100,000 for all strokes, 7.91/100,000 for ischemic strokes, and 5.11/100,000 for hemorrhagic strokes.(ABSTRACT TRUNCATED AT 250 WORDS)

Dandy-Walker malformation associated with occipital meningocele and cardiac anomalies: a rare complex embryologic defect.

The authors present the second case in the literature of Dandy-Walker malformation associated with occipital meningocele and congenital cardiac defect. This association suggests that the time of origin of this posterior fossa malformation is before the sixth postconception week; however, the pathogenesis remains unsettled.

[Familial benign neonatal seizures: EEG, clinical, prognosis and genetic features]. / Les convulsions néo-natales familiales. Leurs aspects électrocliniques et génétiques.

The authors describe 3 families in which several members presented convulsions exclusively during the neonatal period. The EEG and clinical findings showed typical short neonatal convulsions lasting several months and with no apparent etiology. The dominantly inherited transmission is certain. Prognosis is very good, although 14% of the cases in the literature present an onset of epilepsy after 20 years of age. Even though this phenomenon is unusual, the rarity of its description probably stems from lack of knowledge rather than low incidence. We thus would like to show that, even in the neonatal period, familial epilepsy can occur.

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. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case.

[Lissencephaly. Clinical, electroencephalographic and radiological aspects]. / La lissencéphalie. Aspects cliniques, électroencéphalographiques et radiologiques.

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.

[Effects of callosotomy in the treatment of intractable epilepsies in children on psychiatric disorders]. / Les effets de la callosotomie dans le traitement de l'épilepsie rebelle de l'enfant sur les troubles psychiques.

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. However, there have been very few series that have reported results in children. It is not a complete but a partial, callosal section including approximately the anterior two thirds of the callosum. After this surgery the two children improved dramatically because the dangerous tonic and atonic crisis disappeared. Secondly we observed improvement of pre-surgical psychiatric troubles, that is a data not developed in the literature. Before surgery, the two children had a frontal syndrome with hyperkinesia, distractibility, aggressiveness, alexithymia, loss of the program of ideas. During the two months after the section of the anterior two thirds of the corpus callosum, we observed a progressive improvement of the frontal syndrome, with possibility to learn new praxies. The intellectual quotient was not altered and associative functions, depending of the posterior third of the corpus callosum were spared. Anti-epileptic medications were not stopped. We think that the improvement of the frontal syndrome is due to reduction of seizures. Therefore, we insist on the interest of the section of the anterior two thirds of the corpus callosum as treatment of tonic and atonic seizures but also as treatment of psychiatric symptoms depending of a frontal syndrome.

[Catch-up growth in growth hormone deficit children treated with GH since the first year of life]. / Rattrapage statural des enfants ayant un déficit en hormone de croissance traités dès la première année de vie.

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. At the last evaluation, 20 patients (34%) had a height above normal mean for age, and 50 (85%) had a height above the second lower standard deviation (SD) for age. Final height prediction performed in 29 patients was greater than target size (-0.35 +/- 1.4 SD vs -0.56 +/- 0.79 SD). These results show that early treatment of GHD infants allows normal statural growth in the majority of the cases; in addition, they underline the importance of early diagnosis of GH deficiency.

[Intra-uterine gestational age. The value of calcification of dental crowns (author's transl)]. / Age gestationnel intra-utérin. Intèrêt de la calcification des couronnes dentaires.

Calcification in the first decidual molar tooth first appears at the 33-34th week of gestation; and the second at the 36-37th week. It is therefore a stable and precise index of gestational age. It can be estimated in over two-thirds of films of the intra-uterine contents chosen at random. The search for this sign can complement or take the place of looking for epiphyseal centres in the knee. It gives information about gestational age in pathological conditions where bony maturation is abnormal.

[Post-crisis elevation of adrenocorticotropic hormone and prolactin in epileptic children]. / Elévation post-critique de l'hormone adrénocorticotrope et de la prolactine chez les enfants épileptiques.

In six children, aged from 8 to 12 years, presenting with primary generalized epilepsy a significant rise in plasma ACTH and prolactin levels (as compared with levels measured 5 days later) was observed either during a generalized seizure demonstrated by EEG (3 cases) or within 1 hour of a generalized seizure (3 cases). The neurophysiological basis for these post-epileptic endocrine disturbances is a sudden depression of dopaminergic and GABA-ergic pathways. As a result, these endocrine changes, already well documented in adults, may be regarded as a good biological marker of the epileptic origin of a paroxysmal attack.

[Ectodermal anhidrotic dysplasia (author's transl)]. / Dysplasie ectodermique anhidrotique.

The E. A. D. is a genodermatosis characterised by absence or important diminuation of sweat glands. The study of 3 children of different families allows us to identify the diagnostic elements: typical facial signs, anhidrosis, rarity of teeth "buds", abnormalities of dermatoglyphes. This diagnosis must be established early, to protect the newborn from accidents of overheating caused by perspiration insufficiency. The sweat glands are not affected alone: exocrine glands also, explaining the fragility of the upper respiratory tract in such patients. The teeth abnormalities are important and need replacement by false teeth, carefully done at an early date and continued later on. Genetic investigation is indispensable to discover women who carry the disease, with a high risk of transmission to their children.

[Aerosol therapy and cystic fibrosis: a national survey]. / Aérosolthérapie et mucoviscidose: enquête nationale.

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). There were 53 responses (82%) covering 3400 patients. Two-thirds of these patients (2250) used nebulizers. Drugs used by order of frequency were: rhDNase (52 centers), antibiotics (51), conventional fluidifying agents (17), isotonic saline solution (14). Bronchodilators were used as sprays or inhalation chambers. Antibiotics most frequently prescribed were: colimycin (51 centers, doses 500.000 to 3 MIU per aerosol), tobramycin (44 centers, 25 to 600 mg per aerosol), amikacine (7 centers, 150 mg to 1.5 g per aerosol). Indications were mainly chronic colonization with Pseudomonas aeruginosa (39/53 centers) and episodes of bronchial superinfection with Pseudomonas aeruginosa (18/53 centers). Equipment maintenance appeared as the main problem in most centers (daily or more cleaning with antiseptic solutions in 46/53 centers). The differences in indications and dosages prescribed justify further prospective randomized studies to optimize treatment.

[Somnambulism and migraine in children. A non-fortuitous association]. / Somnambulisme et migraine chez l'enfant. Une association non fortuite.

Looking for frequency of somnambulism in 3 homogeneous groups of children, a first group of migrainous children, a second group of epileptic children and a third group of normal children, the authors have observed that an antecedent of somnambulism existed in 28% of migrainous children, when it was found in only 6% of epileptic children, and in 5% of normal children. This significant difference demonstrates that the association of migraine and somnambulism is real. The possibility that migraine and somnambulism appearing in the same patient at different ages might be the expression of a same neurochemical disorder is discussed. The practical interest to know this association is that somnambulism may be a real clinical marker of migrainous background that should be searched for in every patient presenting with chronic cephalalgia.