Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines.

Hidradenitis suppurativa (HS) is a chronic, recurrent, inflammatory disease associated with a high physical and psychological burden. It is a disorder of the infundibular segment of the pilosebaceous unit, characterized by subcutaneous nodules, abscesses, sinus tracts and scar formation on the intertriginous and apocrine-bearing areas. HS is quite rare in young and prepubertal children. It usually begins after puberty, but several reports of prepubertal HS onset have been described. These cases are strongly linked to hormonal disorders and genetic susceptibility. Specific guidelines for prepubertal patients are still lacking, so further studies are warranted to better delineate a tailored approach. This paper aims to summarize the most significant aspects, as well as the most recent information about the epidemiology, pathogenesis, clinical features, diagnosis, comorbidities and treatment of paediatric HS. In addition, we report our clinical experience in managing HS in a group of eight prepubertal patients based on systemic antibiotics (azithromycin) and zinc oral supplementation.

Narcolepsy-cataplexy associated with precocious puberty.

In children, narcolepsy may be the symptom of a brain lesion or genetic disease. The authors report two cases with severe narcolepsy-cataplexy emerging in childhood in close temporal association with obesity and precocious puberty.

Gamma knife surgery for hypothalamic hamartomas accompanied by medically intractable epilepsy and precocious puberty: experience in Mexico.

OBJECT: Hypothalamic hamartoma is a nonneoplastic malformative mass of neurons and glia in the region of the hypothalamus. Because of its location, open surgery is associated with high morbidity and mortality rates. Gamma knife surgery (GKS) may be an efficient and safe treatment approach, which produces little morbidity. The authors describe the results of GKS in three patients with hypothalamic hamartomas. METHODS: All patients were male, aged 3, 12, and 15 years. The lesions were classified according to the Valdueza scale: one was Type IIb and two were Type IIa. The patients presented with gelastic seizures (15-20 per day), generalized epilepsy, behavioral abnormalities, and alterations of the sleep cycle. Precocious puberty was present in one patient. The Type IIb tumor had a volume of 1.8 cm3, and the Type IIa tumors were 597 mm3 and 530.1 mm3. The lesions received 12.5 Gy, 14 Gy, and 15 Gy, respectively, to the 50% isodose line. The patients were followed for 30 to 50 months. After 3 months, all patients showed improvement of their sleep, behavior, and epilepsy. At the present time, these patients are receiving low-dose antiepileptic agents and have achieved adequate social development and school integration. CONCLUSIONS: Gamma knife surgery appears to be a good, safe, and effective option for the treatment of selected hypothalamic hamartomas. No morbidity or mortality was associated with these three cases.

Microsurgical treatment for hypothalamic hamartoma in children with precocious puberty.

BACKGROUND: We review the surgical treatment of hypothalamic hamartoma causing precocious puberty. METHODS: Six children (three girls and three boys) with precocious puberty secondary to hypothalamic hamartoma were recruited for our study. The mean age of the patients was 30 months old (range 13 months to 5 years), and the mean age of the onset of puberty was 7.3 months. All patients were treated by microsurgery. RESULTS: All patients had higher then normal stature, body weight, bone growth, and serum levels of sexual hormones. The boys presented with mature external genitalia, pubic hair, frequent erection, and acne, while the girls presented with growth of breasts and menarche. Magnetic resonance image (MRI) revealed an isointense mass below the tuber cinereum extending into the supersellar and interpeduncular cistern, ranging from 4 to 12 mm in diameter, consistent with pedunculate hamartoma. The hamartoma was removed completely via a right pterional approach. The symptoms and signs of precocious puberty resolved completely, and sexual hormone levels decreased to the pre-pubertal range in all six patients without any postoperative complications. CONCLUSION: We report a series of six children with hypothalamic hamartoma-induced precocious puberty who underwent microsurgical treatment. All of them recovered completely to their age-appropriate state. Microsurgery is a good choice of treatment for pedunculate hypothalamic hamartoma.

Amino acid neurotransmission and initiation of puberty: evidence from nonketotic hyperglycinemia in a female infant and gonadotropin-releasing hormone secretion by rat hypothalamic explants.

The pulse frequency of hypothalamic GnRH secretion increases at the onset of puberty. In rodents and primates, this process involves facilitatory and inhibitory effects mediated through hypothalamic N-methyl-D-aspartic acid (NMDA) and gamma-aminobutyric acid (GABA) receptors, respectively. Precocious puberty was observed in an 11-month-old girl with nonketotic hyperglycinemia. This was thought to result from the effect of high concentrations of glycine (112 micromol/L in cerebrospinal fluid; normal, 3-12) acting on NMDA receptors as a coagonist of glutamate. Regression of pubertal development during anticonvulsive treatment with GABA agonists (loreclezole and vigabatrin) suggested that the stimulatory effects of glycine could be overcome by GABA receptor-mediated inhibition. These two hypotheses were tested in the in vitro model of the explanted hypothalamus from infantile (15-day-old) male rats. Glycine concentrations of 1-10 micromol/L increased the pulse frequency of GnRH secretion. This acceleration was prevented by 7-chlorokynurenic acid, a glycine antagonist at the NMDA receptor complex, and by the GABA agonist loreclezole. In addition, loreclezole and vigabatrin suppressed the developmental increase in the frequency of pulsatile GnRH secretion. The observation of precocious puberty in an infant with hyperglycinemia followed by pubertal regression during GABA agonist therapy and the in vitro findings in hypothalamic explants suggest that stimulatory inputs mediated through NMDA receptors and inhibitory inputs through GABA receptors are involved in the initiation of puberty.

Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly.

An entity including gelastic epilepsy, precocious puberty, polydactyly and a hypothalamic hamartoma type IIa is described in a 16-year-old female patient. Polydactyly was detected at birth, she developed precocious puberty at four years of age, and gelastic epilepsy was diagnosed at age seven. The precocious puberty was successfully treated medically and her treatment was discontinued at the age of 10 years, but the gelastic seizures were difficult to control. When the patient was 11 years old, MRI revealed a hypothalamic hamartoma. The combination of these four features is very rare in the literature.

[Gelastic seizures, precocious puberty and hypothalamic hamartomas. A case report and the contributions of Single Photon Emission Computed Tomography (SPECT)]. / Síndrome de crisis gelásticas, pubertad precoz y hamartoma hipotalámico. Presentación de un caso y aportaciones del SPECT.

We present a patient with gelastic seizures, precocious puberty and a hypothalamic hamartoma. The diagnostic method of choice for hypothalamic hamartoma is new generation MRI. The characteristic MRI images along with lack of growth during the course of disease indicates a diagnosis of hamartoma firmly with no need for pathological studies. Although the physical nature of gelastic seizures in this syndrome is a subject of dispute, SPECT findings point to activity at a distance from nerve routes connecting the hypothalamus to the cortical regions (the temporal region in this case). Prognosis improves if the various components of the syndrome are treated early and when dysgenesis is less extensive.

Gelastic seizures and hypothalamic hamartomas: evaluation of patients undergoing chronic intracranial EEG monitoring and outcome of surgical treatment.

We retrospectively studied 12 consecutive patients with gelastic seizures and hypothalamic hamartomas who, because of intractable epilepsy, underwent chronic intracranial EEG monitoring or epilepsy surgery. All patients had medically refractory seizures that included laughter as an ictal behavior (gelastic seizures). The hypothalamic hamartomas were identified with neuroimaging studies (12 of 12) and by pathologic verification (four of 12). Associated clinical features included behavioral disorders (n = 5), developmental delay (n = 4), and precocious puberty (n = 2). Interictal extracranial EEG predominantly showed bi-hemispheric epileptiform changes suggesting a secondary generalized epileptic disorder. Intracranial EEG recordings, performed in eight patients, indicated the apparent focal onset of seizure activity (anterior temporal lobe [n = 7] and frontal lobe [n = 1]). None of the seven patients who underwent a focal cortical resection, however, experienced a significant reduction in seizure tendency. An anterior corpus callosotomy, performed in two patients with symptomatic generalized epilepsy, resulted in a worthwhile reduction in drop attacks. Results of this study may modify the surgical strategies in patients with gelastic seizures and hypothalamic hamartomas.

Gelastic seizures, precocious puberty, and hypothalamic hamartoma.

The concurrence of gelastic (laughing) seizures and precocious puberty has been reported in 18 patients, including 2 described here. At least 10 patients had hypothalamic hamartomas. Improvements in cerebral imaging permit noninvasive diagnosis. Surgical intervention in seven of these patients was of little diagnostic or therapeutic benefit.

Albright's syndrome with rickets.

Four patients are reported who had Albright's syndrome, hypophosphatemia, and inappropriately low renal tubular reabsorption of phosphate. Three of the patients had radiologic evidence of rickets or osteomalacia, and the fourth had a bone biospy, which showed microradiographic evidence of a previous mineralization defect. Serum parathormone values were elevated before treatment in two patients. Intravenous infusions of calcium in one patient, and of calcium and parathormone in a second patient, showed appropriate target-organ responsiveness. Patients generally showed radiologic improvement of rickets after treatment with large doses of vitamin D, but such treatment failed to restore normal serum values of phosphorus and alkaline phosphatase. It is postulated that a substance elaborated from the dysplastic bone may be interfering with phosphate reabsorption in the renal tubule.

Epileptic laughter with precocious puberty.

A child with associated epileptic laughter and precocious puberty is reported. The significance of epileptic laughter as a possible marker of hypothalamic disease is noted.