Síndrome diencefálico en un niño con desnutrición crónica e hiperactividad / Diencephalic syndrome in a child with chronic malnutrition and hyperactivity

El síndrome diencefálico es una causa infrecuente de desnutrición. Se produce por la disfunción del hipotálamo y está asociado a tumores del encéfalo. Los pacientes presentan una grave y progresiva pérdida de peso, aunque el apetito y la ingesta calórica son, por lo general, adecuados. Característicamente, los síntomas neurológicos son tardíos, lo que retrasa la sospecha diagnóstica. Se presenta a un paciente de 2 años y 6 meses de edad con desnutrición crónica grado II, derivado con diagnóstico presuntivo de enfermedad celíaca con mala adherencia y fracaso del tratamiento. Durante la internación, se arribó al diagnóstico de síndrome diencefálico secundario a un astrocitoma pilocítico grado I.

Diencephalic syndrome is an infrequent cause of malnutrition. It is produced by a malfunctioning hypothalamus, and it is related to encephalic tumors. Patients present a serious and progressive weight loss although the appetite and calorie intake are, usually, adequate. Neurological symptoms typically have a late appearance, delaying diagnostic suspicion. We present a patient aged 2 years and a half with grade II chronic malnutrition, referred with presumptive diagnosis of celiac disease, with poor adherence and treatment failure. During hospitalization, diagnosis of diencephalic syndrome secondary to grade I pilocytic astrocytoma was reached.

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants / 소아과

PURPOSE: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. METHODS: We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. RESULTS: Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18+/-10.5 months, and diagnosis after symptom onset was made at the mean age of 11+/-9.7 months. The mean z score was -3.15+/-1.14 for weight, -0.12+/-1.05 for height, 1.01+/-1.58 for head circumference, and -1.76+/-1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. CONCLUSION: Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

Síndrome diencéfalico como causa de desnutrición severa / Diencephalic syndrome as a cause of severe malnutrition

El síndrome diencefálico es un complejo de síntomas y signos causados por disfunción de esta área del encéfalo caracterizado por una marcada desnutrición aun cuando la ingesta calórica es normal. Se presentan dos casos, el primero de ellos una niña de 13 meses de edad con antecedentes de un fallo de medro a partir del tercer mes de vida, que ingresó en este servicio para el estudio de una desnutrición proteico energética severa que presentó en el transcurso de su evolución un apetito inestable y al mes de ingresada un evento paroxístico. Se le realizó resonancia magnética nuclear y se comprobó imagen hipodensa, redondeada, que medía aproximadamente 3 x 3 cm en región supraselar; fue intervenida quirúrgicamente en 2 ocasiones, se realizó exéresis del tumor, y se confirmó anatomopatológicamente un astrocitoma pilocítico de bajo grado. El segundo paciente, un lactante que ingresó con el diagnóstico confirmado de tumor intracraneal para estudio, semejante al caso presentado anteriormente, mostraba una marcada desnutrición proteico energética, se le realizó tomografía axial computarizada en la que se pudo apreciar una extensa masa tumoral supraselar con dilatación del sistema ventricular. Durante su evolución presentó marcada anorexia con pérdida de peso progresiva, por lo que se realizó gastrostomía. A los 59 días falleció como consecuencia de una pancitopenia, y la necropsia concluyó: astrocitoma pilocítico de bajo grado.

Diencephalic syndrome is a set of symptoms and signs caused by dysfunction in this area of the encephalon and characterized by marked malnutrition despite adequate intake of calories. Two cases were reported in this paper. The first one was a 13-years old girl with a history of medro failure since her 3rd month of life, who was admitted to this service for the study of her severe protein/energy malnutrition. In the course of her hospitalization, she presented with unstable appetite and suffered a paroxistic event one month after being hospitalized. The infant girl was then performed magnetic resonance imaging test which revealed a 3 cm x 3cm rounded hypodense image in the suprasellar region. She was operated on twice, the tumor was excised and the anatomic and pathological analysis yielded the presence of low grade pilocytic astrocytoma. The second patient was an small infant who was admitted to the service with a confirmed diagnosis of intracranial tumor for study, very similar to the case previously presented. He suffered an acute protein/energy malnutrition, so he was performed a computerized tomography which showed a broad tumoral mass in the suprasellar region with dilated ventricular system. During the hospitalization, he presented with marked anorexia, progressive loss of weight and he finally underwent gastrotomy, but he died 59 days after admission as a result of pancytopenia. The result of necropsy was low grade pilocytic astrocytoma.

A Case of Diencephalic Syndrome Presented as Failure to Thrive from Three Month of Age / 대한소아소화기영양학회지

A 14-month-old child visited emergency room with stuporous mental state. He had been suffering from failure to thrive (FTT) and emaciation since three months of age, but he had good appetite and had been euphoric. A large mass was found in the third ventricle by brain CT and MRI. His parents refused operative removal of the mass and he expired 14 days after admission. It is necessary to include diencephalic syndrome in the differential diagnosis of failure to thrive when infants show FTT despite of good appetite and euphoric status.

A Case of Diencephalic Syndrome / 대한소아내분비학회지

Diencephalic syndrome is a rare cause of failure to thrive in infancy and early childhood. The syndrome is characterized by profound emaciation with normal appetite, loss of cutaneous adipose tissue, hyperactivity, euphoria, and nystagmus. It commonly occurs in association with chiasmatic and hypothalamic gliomas. It has also been described in association with other histologic types. There is the marked increase of serum growth hormone, which may exhibit an inappropriate, even paradoxical response in stimulation test. A male infant of 12 months of age, showed markedly elevated growth hormone but he had failure to thrive findings. Evenly enhanced round mass was seen at suprasella area in brain CT. Its histological findings was "Desmoplastic infantile ganglioglioma", very rare histologic type. Here we report a case of diencephalic syndrome presented by failure to thrive in association with hypothalamic tumors.

Clinical Characteristics, Including Endocrinological Changes, of Optic Glioma in Children

PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus, and panhypopituitarism, before and after treatment. We reviewed the clinical features of optic gliomas, especially the endocrinologic manifestations before/after treatment. METHODS: Retrospective clinical characteristics were reviewed. Thyroid function test, combined anterior pituitary hormone test, and growth hormone provocation test were performed before and after surgical resection or radiotherapy. RESULTS: Twenty one patients (male: female 9:12, mean age, 6 yr) diagnosed by pathologic specimens were included. Initial manifestations were decreased visual acuity (47.6%), headache/vomiting (33.3%), diencephalic syndrome (28.6%), nystagmus (23.8%), strabismus (9.5%), proptosis (4.8%), and hydrocephalus (4.8%). Ninteen optic gliomas (90.5%) were in the intracranial location. The other 2 optic gliomas were confined in the orbital cavity, which were associated with neurofibromatosis-1. Endocrinologic review: There were no endocrinologic symptoms or signs in all patients before operation. But there were multiple hypothalamic-pituitary hormonal deficiencies, including growth hormone deficiency (85.7%; complete 71.4%, partial 14.3%), hypothyroidism (64.7%), diabetes insipidus (53%; persistent 41.2%, transient 11.8%), ACTH deficiency (28.6%), and sexual precocity (5.9%), postoperatively. CONCLUSION: We suggest that early-onset of tumor, especially with diencephalic syndrome, and/or intracranial involvement can be considered as a bad prognostic factor. While optic glioma is a pathologically benign tumor, it is not so clinically benign as thought, because of possible permanent hypopituitarism and diencephalic syndrome. Therefore, we have to carefully follow up the patients to look for the complications, such as hypopituitarism, of this tumor after operation.

Clinical Characteristics, Including Endocrinological Changes, of Optic Glioma in Children

PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus, and panhypopituitarism, before and after treatment. We reviewed the clinical features of optic gliomas, especially the endocrinologic manifestations before/after treatment. METHODS: Retrospective clinical characteristics were reviewed. Thyroid function test, combined anterior pituitary hormone test, and growth hormone provocation test were performed before and after surgical resection or radiotherapy. RESULTS: Twenty one patients (male: female 9:12, mean age, 6 yr) diagnosed by pathologic specimens were included. Initial manifestations were decreased visual acuity (47.6%), headache/vomiting (33.3%), diencephalic syndrome (28.6%), nystagmus (23.8%), strabismus (9.5%), proptosis (4.8%), and hydrocephalus (4.8%). Ninteen optic gliomas (90.5%) were in the intracranial location. The other 2 optic gliomas were confined in the orbital cavity, which were associated with neurofibromatosis-1. Endocrinologic review: There were no endocrinologic symptoms or signs in all patients before operation. But there were multiple hypothalamic-pituitary hormonal deficiencies, including growth hormone deficiency (85.7%; complete 71.4%, partial 14.3%), hypothyroidism (64.7%), diabetes insipidus (53%; persistent 41.2%, transient 11.8%), ACTH deficiency (28.6%), and sexual precocity (5.9%), postoperatively. CONCLUSION: We suggest that early-onset of tumor, especially with diencephalic syndrome, and/or intracranial involvement can be considered as a bad prognostic factor. While optic glioma is a pathologically benign tumor, it is not so clinically benign as thought, because of possible permanent hypopituitarism and diencephalic syndrome. Therefore, we have to carefully follow up the patients to look for the complications, such as hypopituitarism, of this tumor after operation.