[Social participation after childhood craniopharyngioma]. / Morbidité et impact sur la participation sociale du craniopharyngiome de l'enfant.

Craniopharyngioma is a rare, benign central nervous system tumor, which may be a source of multiple complications, from endocrinology to vision, neurology and neurocognitive functions. This morbidity can lead to reduced participation in life activities, as described in the International Classification of Functioning, Disability, and Health. The primary objective of this study was to measure participation in life activities in a population of children and young adults affected by childhood craniopharyngioma, using the LIFE-H questionnaire (Assessment of Life Habits), validated as a social participation measurement tool in various pediatric disabilities. We also describe complications in our population and examined the potential links between tumor characteristics, complications, and participation in life activities. PATIENTS AND METHODS: This was a descriptive study, including all patients having presented childhood craniopharyngioma (before 18 years of age), followed in the Lyon region between 2007 and 2013. The main criterion was the LIFE-H results, completed by the patient or the carer. RESULTS: Of 21 patients included in the study, 14 completed the questionnaire, a mean 6.7 years after the diagnosis (SD: 3.9 years). The mean total LIFE-H score was 8.4 (SD: 1.03) for a normal score estimated at 10 in the general population. The lowest scores affected the nutrition, community life, and recreation dimensions. No patient had a normal score on all dimensions; 57% of the patients had more than three dimensions affected. The variability of the results between patients was lower for some dimensions with high means (fitness, personal care, communication, housing, mobility, responsibilities, and education) than in others (nutrition, interpersonal relationships, community life, employment, and recreation) with rather low means. All patients had an endocrinological deficit, 19% hypothalamic syndrome, 52% an impaired fulfillment feeling, 76% visual impairment, 14% neurologic impairment, and 91% neurocognitive impairment. In the entire group of patients, 57% were able to attend a normal school (of which 38% needed a personal helper), 43% had to enter a specialized school. In patients in a specialized school, the LIFE-H results were significantly lower in the nutrition, communication, housing, and recreation dimensions. Girls also had significantly better results in many dimensions than boys. DISCUSSION: Heavy comorbidity goes with childhood craniopharyngioma and affects patients' participation in life activities, which is not very low but multidimensional (more than three affected dimensions). This participation is mainly affected in social dimensions, whereas in cerebral palsy, where the LIFE-H has been tested several times, the daily activities dimensions are more affected. CONCLUSION: Patients with childhood craniopharyngioma are affected in their participation in daily activities, mainly in the social dimensions. This could be improved with systematic diagnosis of these participation impairments, with the goal of adapted multidisciplinary management.

Pineal region tumors: Clinical symptoms and syndromes.

The present paper investigates the clinical picture and the different clinical signs that reveal pineal region tumors or appear during the course of the follow-up. Biological malignancy and tumor extension determine the semiology and its setting up mode. Typical endocrine signs, dominated by abnormal puberty development, are frequently a part of the clinical scene. Bifocal or ectopic localization in the hypothalamic-pituitary region is accompanied by other endocrine signs such as ante- or post-pituitary insufficiencies which occur several months or even years after the first neurological signs appear. Due to a mass syndrome and obstructive hydrocephalus, intracranial hypertension signs are frequent but unspecific. A careful ophthalmologic examination is essential to search upward gaze paralysis and other signs of the Parinaud's tetrad or pentad. Midbrain dysfunction, including extrinsic aqueduct stenosis, are also prevalent. Except for abnormal pubertal signs, hyper-melatoninemia (secretory tumors) or a-hypo-melatoninemia (tumors destructing pineal) generally remains dormant. Some patients present sleep problems such as narcolepsy or sleepiness during the daytime as well as behavioral problems. This suggests a hypothalamic extension rather than a true consequence of melatonin secretion anomalies. Similarly, some patients may present signs of a "pinealectomized" syndrome, including (cluster) headaches, tiredness, eventually responsive to melatonin.

[Papillar thyroid cancer: a rare case of a second primary tumor in retinoblastoma]. / Cancer papillaire de la thyroïde : second cancer après un rétinoblastome.

Retinoblastoma is the most common primary cancer of the eye in children. The prognosis for survival is excellent. The current therapy includes an improved survival rate and decreased iatrogenic sequelae. The relative risk of a second tumor in survivors of retinoblastoma is documented, especially in those who carry a germline RB mutation. It is strongly increased in case of radiation therapy. The most common types of second primary tumor are sarcoma of soft tissues and osteosarcoma. We present here a rare case of a retinoblastoma patient who received radiation therapy as a part of his treatment and developed a papillar thyroid cancer as a second malignancy. Papillar thyroid cancer has a good prognosis. Systematic screening for thyroid carcinoma should be undertaken in patients irradiated for congenital retinoblastoma.

Optimization of growth hormone dosing in children born small for gestational age: an open-label, randomized study of children during the fourth year of therapy.

BACKGROUND: Optimal dosage for growth hormone (GH) therapy in short, prepubertal children born small for gestational age (SGA) is controversial. METHODS: SGA OPTIMIS (NCT00249821) is a multicenter, open-label, parallel-group, pilot study of short children born SGA who had received recombinant human GH (r-hGH) (57 µg/kg/day) for 3 years. Children were randomized 1:1 to receive either 57 or 35 µg/kg/day r-hGH during year 4. The primary endpoint was height gain during year 4. RESULTS: 22 children were randomized (57 µg/kg/day, n = 10; 35 µg/kg/day, n = 12) and 21 completed the fourth year of therapy; 22 were included in efficacy analyses. During year 4, mean [standard deviation (SD)] height velocity was 6.4 (1.4) and 4.4 (1.2) cm/year (p = 0.001) and height velocity SD score (SDS) was 0.3 (0.3) and -0.1 (0.2) (p = 0.002) in the 57 and 35 µg/kg/day groups, respectively. The 57 µg/kg/day group continued with catch-up growth, had a significantly higher mean weight gain (p = 0.015) and significantly higher insulin-like growth factor-I levels at 12 months (p = 0.038). Five treatment-emergent adverse events were reported; none was serious or caused study withdrawal. CONCLUSIONS: Children who continued receiving 57 µg/kg/day r-hGH in year 4 had significantly greater height gain than those receiving 35 µg/kg/day r-hGH.

Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

OBJECTIVE: Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. SUBJECTS AND METHODS: Girls (n=61) aged <4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. RESULTS: After 4 years, a gain in mean H-SDS of 1.0 SDS (from -2.33±0.73 to -1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from -2.09±0.81 to -2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. CONCLUSION: Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

Craniopharyngiomas: our experience in Lyon.

OBJECTIVE: We reviewed our experience in surgical treatment of craniopharyngiomas. Surgical treatment of craniopharyngiomas in children represents a challenge for neurosurgeons because it presents a different set of surgical problems. Results are controversial and debates concerning strategies to ameliorate the rate of success and to decrease the rate of morbidity and mortality are ongoing. Post-surgical quality of life is related to the anatomical relationship between the hypothalamic region, vascular structures and optic pathways. DISCUSSION: From 1985 to 2004, 60 children (age range, 4 months to 18 years) were treated in our institution. Since 1987, all patients were studied with pre- and postoperative MRI. Two groups of patients were distinguished: a group of 36 patients treated with surgical direct surgery; a second group of 24 patients treated only with intracystic chemotherapy with bleomycin (18 patients) or associated with surgery (six patients). In the first group, the removal of lesion was total in 74% of cases. Two patients died in the early postoperative period and two more died later (early mortality of 5% and late mortality of 11%). All patients presented ante-pituitary insufficiency and diabetes insipidus, which required substitutive treatment. Twenty-two patients presented with visual problems, including amaurosis in two cases. In the group treated with bleomycin, 18 patients presented a primary cystic or a mixed form of craniopharyngioma and six patients showed a cystic recurrence. Eighteen patients were treated with bleomycin only. The dose used varied from 30 mg to a maximal dose of 150 mg, with a middle dose of 60 mg in the large majority of cases. In this group, the cyst disappeared in 12 patients and reduced to 30% of its initial volume, and stabilization of the lesion was achieved in the other six patients. Only 11 patients presented partial endocrine insufficiency. Of the 18 patients, 16 were of school age, 14 of whom were following a normal educational program and two an assisted program. No mortality was reported. CONCLUSION: Our experience showed that in the group treated with intracystic chemotherapy alone, results were better with a low rate of morbidity and mortality. Endocrinological, visual and neuropsychological evaluations were also correlated with better outcome. In cases of cystic craniopharyngiomas, we considered bleomycin as the treatment of choice. For solid forms or for cases resistant to intracystic chemotherapy with bleomycin, direct surgery has to be proposed.

Antileukemic and long-term effects of two regimens with or without TBI in allogeneic bone marrow transplantation for childhood acute lymphoblastic leukemia.

Between September 1986 and June 1997, 24 children with high-risk ALL in CR1 were allografted after TAM (fractionated TBI, high-dose Ara-C, and melphalan; n = 10) or BAM protocol (busulfan, high-dose Ara-C, and melphalan; n = 14). The EFS for transplants from sibling donors was 33% with TAM and 62% with BAM (P = 0.148). The probability of acute GvHD was 70% with TAM and 15% with BAM (P = 0.003). Four of 17 evaluable patients relapsed: one after TAM and three after BAM. In all, 46 other children transplanted in CR beyond CR1 were studied for sequelae. Long-term side effects were more frequent in TAM vs BAM. In children with ALL, busulfan may be a good alternative to TBI to improve the quality of life.

Hypothalamic hamartoma: the role of surgery in a series of eight patients.

Hypothalamic hamartoma are rare lesions. We report a new series of eight patients treated for precocious puberty (six cases) or gelastic seizures (two cases). Surgical resection was total in four cases (three pediculated and one sessile). Precocious puberty was controlled by surgical treatment in all cases. Gelastic seizures were controlled by medical treatment, but the patients did not become seizure free. We observed no mortality and no endocrinological or visual morbidity. The fact that a vascular "rete mirabilis" was observed on the surface of the lesion in our surgical material is an argument favoring a vascular mechanism in precocious puberty. Coagulation of this vascular structure can help control precocious puberty. Our series confirms that the hypothalamic hamartoma can be surgically treated when patients fail to respond to medical treatment, when the length of the treatment cannot be tolerated by the chidren and their families, and when there are uncontrolled gelastic seizures

Intracystic chemotherapy with bleomycin in the treatment of craniopharyngiomas.

OBJECT: Since bleomycin has not yet been used very frequently in the treatment of patients with craniopharyngioma, it seemed important to document the course of a series of such patients treated with this preparation. METHODS AND RESULTS: Local chemotherapy with bleomycin was performed in 24 patients (20 children and 4 adults), 16 of whom presented with cystic or mixed (solid/cystic) craniopharyngioma and 8, with recurrent cystic craniopharyngioma. The drug was administered through an Ommaya reservoir, which was placed either by using a direct surgical approach (6 patients) or a stereotactic approach (16 patients), or with endoscopic assistance in patients with hydrocephaly (2 patients). Injection of bleomycin was always preceded by a water-tightness test. Each patient received a 3-mg dose of bleomycin every other day. The total dose of bleomycin injected ranged from 28 mg to 150 mg. Most patients (17, or 70%) were treated only with intracystic chemotherapy. Chemotherapy was followed by surgery in 7 patients. Five were operated on at the beginning of our study, and 2 required surgery because chemotherapy yielded poor results. A toxic dose was injected in 1 patient only: a severe complication, i.e. blindness, was observed. The follow-up period ranged from 2 years to 10 years. CONCLUSION: Our results show that bleomycin can be an alternative in the treatment of cystic craniopharyngiomas or cystic recurrences, as it reduces surgical morbidity and improves clinical results.

[Ventriculostomy of the third ventricle and diabetes insipidus]. / Ventriculostomie du troisième ventricule et diabète insipide.

We report the case of a 2-year-old child who sustained a permanent diabetes insipidus following a third ventriculostomy for hydrocephalus from a Dandy-Walker syndrome. Ventriculostomy, used for therapy of non-communicating hydrocephalus, can cause complications such as diabetes insipidus. The latter has rarely been reported and is usually transient. Following ventriculostomy, a close postoperative surveillance is essential, especially in children.

Is the response to rhGH in haemodialysis patients less effective than in patients with chronic renal failure? Société de Néphrologie Pédiatrique.

A total of 82 prepubertal children with chronic renal insufficiency and with (HD, n = 28) or without (CRI, n = 54) haemodialysis were treated with rhGH, 1 i.u./kg/week. The absolute response (cm/year) was better in CRI children, but the growth velocity gain was similar in the two groups. In addition, the decrease in growth velocity during the second year on rhGH was more marked in CRI patients.

[Vulvitis in young girls: value of cleansing base with concentrated colloidal oat extract]. / Vulvites de la petite fille: intérêt d'une base lavante à l'extrait concentré colloïdal d'avoine.

Vulvitis is a frequent infection in young girls. Fourty prepubertal children with recurrent vulvitis were submitted, besides usual local hygiene rules, to a twice daily toilet with a cleansing base containing colloidal oat extract (Emulave fluid). It was associated with a colouring product in case of severe local inflammation during the first days of treatment. Minimal duration of the treatment was 15 days. In cases of long-term use, exceeding 3 months, no recurrence of local infection was observed. In all cases, tolerance was excellent.

[Virilizing ovarian tumor in an adolescent]. / Tumeur virilisante de l'ovaire chez une adolescente.

This clinical case describes a 13 year-old pubertal girl suffering from secondary virilization, amenorrhea, and abdominal mass. Plasma testosterone and androstenedione levels were markedly elevated. Upon surgery, an ovarian tumor containing 5 l of liquid was removed. The histologic examination revealed a macrocystic granulosa cell type tumor of non-juvenile type. After removal of the tumor, which included ipsilateral ovariectomy, the contralateral ovary developed polycystic changes. The role of the tumoral hyperandrogeny in inducing this contralateral polycystic ovary is discussed.

[Study of the dimensions of the penis from birth to adult age and as a function of testicular volume]. / Etude des dimensions de la verge de la naissance à l'âge adulte et en fonction du volume testiculaire.

Year to year mean +/- 2 standard deviation values of the length and circumference of the penis from birth to 18 years have been determined on a population of white French children and adolescents of European origin. In addition, curves relating the length and the circumference of the penis with the testicular volume are reported. These curves appear to be useful for an appropriate evaluation of the size of the penis in the adolescents where large variations of the pubertal development are observed.

[Isolated metrorrhagia in a prepubertal child caused by functional ovarian cyst]. / Métrorragies isolées chez une enfant prépubère par kyste fonctionnel ovarien.

The authors report the case of a 10-year-old girl, without any sign of pubertal development, who showed repeated metrorrhagia, related to a functional ovarian cyst. Cyproterone acetate therapy gave only a transient remission of the metrorrhagia. A complete remission was obtained with a 6 months treatment with an LHRH analog.

[Benign vulvovaginal tumefactions in children. General review illustrated by a series of 57 personal cases]. / Les tuméfactions vulvo-vaginales bénignes de l'enfant. Revue générale illustrée par une série personnelle de 57 cas.

There are numerous etiologies of benign vulvo-vaginal tumefactions in children. However, the etiological diagnosis can usually be based on clinical data after careful examination. Para-urethral cysts are the main cause of labial and vestibular tumefactions; they are generally cured by simple puncture. Solid vaginal tumors are uncommon, but they always require surgical resection in order to exclude the exceptional and severe malignant tumours. Neonatal hydrocolpos is frequent in our experience and must always be treated surgically; associated malformations are frequent and must be systematically searched for. Ectopic prolapsed ureterocele and circular prolapse of the urethral mucosa are easily recognizable and need surgical treatment.

[Treatment of purulent leukorrhea in young girls]. / Traitement des leucorrhées purulentes de la petite fille.

The case of a prepuberal girl complaining of a more or less purulent genital discharge, eventually associated with bleeding, evokes a vulvovaginitis. Vulvovaginitis is much less frequent than vulvitis. When a vulvovaginitis is resistant to medical treatment or is recurrent, an endoscopic examination is required in order to eliminate the presence of a vaginal foreign body. Treatment includes local cleaning, local antibiotics and sometimes a short course of oestrogen therapy. Oral antibiotics are indicated only in specific germ infections.