[Pancreatectomy level in the persistent hyperinsulinic hypoglycemia]. / Extensión de la pancreatectomía en la hipoglucemia hiperinsulínica persistente: nueva estrategia.

INTRODUCTION: Persistent neonatal and infantile hyperinsulinemic hypoglycemia (PNHH) is a rare entity which remains to be elucidated but associated with severe lesions in pediatric patients. The aim of this study is to present our current surgical strategy face to this disease, based on our pathology findings and clinical experience. MATERIAL AND METHODS: It is a retrospective study of 29 patients treated at our centre, medically and surgically. In 15 surgical patients, morphologic, morphometric and immunohistochemical studies for insulin, somatostatin and glucagon were performed and consequently it has been possible to establish a focal and different forms of a diffuse type. RESULTS: Out of 29 patients studied, 25 were diagnosed before their first year old and 4 patients between the first and second infancy. Of the 25 first patients, one died at 7 hours postpartum. Twelve patients only received medical treatment, one of them died at 45 days of life and the remaining 11 patients had good outcome. Another 12 patients received in addition surgical treatment. In 2 of them we observed adenoma which was removed and patients cured. In the remaining 10 patients a subtotal pancreatectomy was performed. (One case was informed as normal and cured and the other 9 had the diffuse type). Of these 9 patients with diffuse type, 4 died, 3 cured and 2 underwent second surgery. Out of the 4 patients diagnosed in infancy, 3 underwent surgery (2 adenomas and 1 diffuse type) and the other one received only medical treatment. CONCLUSIONS: Currently, we give medical treatment in all types and forms of PNHH. If the patient is resistant, we dismiss adenoma. If this is diagnosis we remove it. If the type is diffuse, near-total pancreatectomy is performed with a peroperatory biopsy. In cases of hyperplasia or mixed form we recommend a total pancreatectomy and in case of nesidioblastosis we recommend a partial pancreatectomy.

Diabetes insípida central familiar: una enfermedad evolutiva / Familial central diabetes insipidus: an evolutive disease

La diabetes insípida (DI) central familiar constituye una enfermedad hereditaria, pero no congénita, de carácter evolutivo y que suele iniciar manifestaciones clínicas en la primera infancia. Se presenta el caso de dos hermanas gemelas univitelinas de 5 años de edad, con padre afecto de DI pitresín-sensible, remitidas para estudio de enuresis primaria y síndrome de polidipsiapoliuria. Son diagnosticadas inicialmente de polidipsia primaria por presentar una respuesta normal a dos tests de restricción hídrica. Debido a la progresión y empeoramiento de la sintomatología se inicia tratamiento con desmopresina nasal presentando oligoanuria y desaparición de la sed. Un nuevo test de restricción hídrica muestra una capacidad de concentración urinaria conservada (paciente 1: 745 mOsm/kg; paciente 2: 757 mOsm/kg). Tras la administración de desmopresina la osmolalidad urinaria se incrementa a 933 mOsm/kg y 864 mOms/kg respectivamente, siendo diagnosticadas de DI central parcial. La resonancia magnética nuclear (RMN) en T1 muestra ausencia de la señal hiperintensa de la neurohipófisis. El estudio genético del gen de la vasopresina en el padre y las dos hermanas pone de manifiesto la mutación R51C en heterozigosis en el exón 2 de la neurofisina, confirmando la existencia de una DI central parcial familiar. En conclusión, ante un paciente con síndrome poliuria-polidipsia en caso de obtener resultados compatibles con polidipsia primaria, estaría indicado el estudio genético si tenemos constancia de antecedentes familiares (AU)

Pancreatectomy extension in persistent hyperinsulinaemic hypoglycaemia: a new strategy.

INTRODUCTION: Persistent neonatal and infantile hyperinsulinaemic hypoglycaemia (PNHH) is a rare entity which remains to be elucidated but is associated with severe lesions in paediatric patients. The aim of this study was to present our current surgical strategy with this disease, based on our pathologic findings and clinical experience. MATERIALS AND METHODS: This is a retrospective study of 29 patients treated, medically and surgically, at our centre. In 15 surgical patients, morphologic, morphometric and immunohistochemical studies for insulin, somatostatin and glucagon were performed and consequently it was possible to establish a focal and different forms of a diffuse type. RESULTS: Of 29 patients studied, 25 were diagnosed before one year of age and 4 between the first and second year of infancy. Of the first 25 patients, one died 7 hours post partum. Twelve patients received medical treatment alone: one died at 45 days of life and the remaining 11 had a good outcome. Another 12 patients additionally received surgical treatment. In 2 of these, adenoma were observed and removed and the patients cured. Subtotal pancreatectomy was performed in the remaining 10. (One case was normal and cured and the other 9 had the diffuse type.) Of these 9 patients with diffuse type, 4 died, 3 were cured and 2 underwent repeat surgery. Of the 4 patients diagnosed later, 3 underwent surgery (2 with adenomas and 1 diffuse type) and the other received medical treatment alone. CONCLUSIONS: We currently give medical treatment for all types and forms of PNHH. If the patient is resistant to therapy, adenoma is ruled out. If adenoma is diagnosed, it is removed. If the type is diffuse, near-total pancreatectomy is performed with a perioperative biopsy. In cases of hyperplasia or mixed forms we recommend total pancreatectomy and in cases of nesidioblastosis, partial pancreatectomy.