ABSTRACT
BACKGROUND: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. MATERIALS AND METHODS: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. CASE DESCRIPTION AND RESULTS: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. CONCLUSIONS: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.
Subject(s)
Astrocytoma , Glioma , Humans , Astrocytoma/complications , Astrocytoma/diagnosis , Astrocytoma/drug therapy , Delayed Diagnosis/adverse effects , Quality of Life , Glioma/complications , Glioma/diagnosis , Failure to Thrive/etiology , SyndromeABSTRACT
The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5th percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence.
Subject(s)
Astrocytoma , Failure to Thrive , Astrocytoma/complications , Astrocytoma/diagnosis , Astrocytoma/pathology , Child , Delayed Diagnosis , Failure to Thrive/diagnosis , Failure to Thrive/etiology , Humans , Infant , Syndrome , Weight Gain , Weight LossABSTRACT
INTRODUCTION: Diencephalic syndrome (DS) is a rare syndrome with failure to thrive (FTT) as the primary manifestation, which is often associated with astrocytoma or glioma and rarely caused by germinoma. To our knowledge, there are no reports of female patients presenting with DS secondary to germinoma. CASE REPORT: we report a case (an 11-year-old girl) of diencephalic syndrome presenting with FTT. She was diagnosed with severe malnutrition in the local hospital two years before admission and still did not show normal development after long-term nutritional support. Finally, after ruling out increased metabolism, inadequate caloric intake, and nutrient absorption, intracranial MRI showed a space-occupying lesion in the suprasellar cisterna-hypothalamus area. After excluding other causes of FTT, a biopsy was performed for pathological examination and demonstrated a germinoma. An excellent therapeutic effect was achieved during the three-month follow-up after radiotherapy. CONCLUSION: This case reminds us that intracranial tumors should be considered an indispensable etiology for patients with suspicious FTT, and early diagnosis and intervention may achieve a good prognosis.
Subject(s)
Astrocytoma , Brain Neoplasms , Germinoma , Pituitary Diseases , Astrocytoma/surgery , Brain Neoplasms/complications , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/therapy , Child , Failure to Thrive/complications , Female , Germinoma/complications , Germinoma/diagnostic imaging , Germinoma/pathology , Humans , SyndromeABSTRACT
Background: Children with suprasellar low grade glioma (LGG) frequently develop problems to maintain their body weight within the normal range, due to hypothalamic dysfunction. Hypothalamic damage may result in the diencephalic syndrome (DS), characterized by underweight or failure to thrive, but also in hypothalamic obesity (HO). Children with LGG presenting with DS at young age often develop HO later in life. The underlying pathophysiology for this change in body mass index (BMI) is not understood. Previous hypotheses have focused on the tumor or its treatment as the underlying cause. To better understand its etiology, we aimed to relate changes in BMI over time in children with suprasellar LGG presenting with DS to age, tumor progression, treatment, and endocrine function. We hypothesize that the development of HO in children with LGG presenting with DS is related to maturation status of the hypothalamus at time of injury and thus age. Methods: In this retrospective case series, all cases diagnosed in the Netherlands with suprasellar located LGG, currently treated or followed, with a history of DS developing into HO were included. Results: In total, 10 children were included. Median age at LGG diagnosis was 1.5 years (range 0.4-5.5), median BMI SDS was -2.64. The children developed overweight at a median age of 4.5 years (2.2-9.8). The median total difference in BMI SDS between underweight and obesity was +5.75 SDS (4.5-8.7). No association could be found between transition of DS to HO and onset of a pituitary disorder (present in 70.0%), surgery, chemotherapy, or tumor behavior. Two had developed central precocious puberty (CPP), both while having underweight or normal weight. Conclusion: The shift from DS to HO in children with hypothalamic LGG may be associated with age and not to tumor behavior, treatment characteristics or pituitary function. The development of CPP in these children seems not to be related to obesity. Our findings may indicate that the clinical picture of hypothalamic dysfunction reflects the maturation state of the hypothalamus at time of lesioning. Future prospective studies are needed to better understand underlying causative mechanisms of the morbid changes in body weight.
Subject(s)
Glioma , Hypothalamic Diseases , Pediatric Obesity , Pituitary Diseases , Puberty, Precocious , Body Weight , Child , Child, Preschool , Glioma/therapy , Humans , Hypothalamic Diseases/complications , Infant , Pediatric Obesity/complications , Pituitary Diseases/complications , Puberty, Precocious/complications , Retrospective Studies , Thinness/complicationsABSTRACT
Diencephalic syndrome (DS) is a rare pediatric condition associated with optic pathway gliomas (OPGs). Since they are slow-growing tumors, their diagnosis might be delayed, with consequences on long-term outcomes. We present a multicenter case series of nine children with DS associated with OPG, with the aim of providing relevant details about mortality and long-term sequelae. We retrospectively identified nine children (6 M) with DS (median age 14 months, range 3-26 months). Four patients had NF1-related OPGs. Children with NF1 were significantly older than sporadic cases (median (range) age in months: 21.2 (14-26) versus 10 (3-17); p = 0.015). Seven tumors were histologically confirmed as low-grade astrocytomas. All patients received upfront chemotherapy and nutritional support. Although no patient died, all of them experienced tumor progression within 5.67 years since diagnosis and were treated with several lines of chemotherapy and/or surgery. Long-term sequelae included visual, pituitary and neurological dysfunction. Despite an excellent overall survival, PFS rates are poor in OPGs with DS. These patients invariably present visual, neurological or endocrine sequelae. Therefore, functional outcomes and quality-of-life measures should be considered in prospective trials involving patients with OPGs, aiming to identify "high-risk" patients and to better individualize treatment.
ABSTRACT
Despite high survival, paediatric optic pathway hypothalamic gliomas are associated with significant morbidity and late mortality. Those youngest at presentation have the worst outcomes. We aimed to assess presenting disease, tumour location, and treatment factors implicated in the evolution of neuroendocrine, metabolic, and neurobehavioural morbidity in 90 infants/children diagnosed before their third birthday and followed-up for 9.5 years (range 0.5-25.0). A total of 52 (57.8%) patients experienced endo-metabolic dysfunction (EMD), the large majority (46) of whom had hypothalamic involvement (H+) and lower endocrine event-free survival (EEFS) rates. EMD was greatly increased by a diencephalic syndrome presentation (85.2% vs. 46%, p = 0.001)), H+ (OR 6.1 95% CI 1.7-21.7, p 0.005), radiotherapy (OR 16.2, 95% CI 1.7-158.6, p = 0.017) and surgery (OR 4.8 95% CI 1.3-17.2, p = 0.015), all associated with anterior pituitary disorders. Obesity occurred in 25% of cases and was clustered with the endocrinopathies. Neurobehavioural deficits occurred in over half (52) of the cohort and were associated with H+ (OR 2.5 95% C.I. 1.1-5.9, p = 0.043) and radiotherapy (OR 23.1 C.I. 2.9-182, p = 0.003). Very young children with OPHG carry a high risk of endo-metabolic and neurobehavioural comorbidities which deserve better understanding and timely/parallel support from diagnosis to improve outcomes. These evolve in complex, hierarchical patterns over time whose aetiology appears predominantly determined by injury from the hypothalamic tumour location alongside adjuvant treatment strategies.
ABSTRACT
BACKGROUND: Diencephalic region of the brain harbors sites with a considerable amount of aquaporin-4 expression. Neuromyelitis optica spectrum disorder (NMOSD) primarily involves autoimmune processes against this molecule. However, little is known about the frequency of symptoms of diencephalic involvement in NMOSD patients. OBJECTIVE: To investigate the frequency of symptoms of diencephalic involvement in NMOSD patients and describe the associated characteristics in patients presenting such symptoms. MATERIALS AND METHODS: This retrospective cohort included 145 NMOSD patients (39 males and 106 females) who visited Isfahan Multiple Sclerosis Center from January 2013 to February 2020 for approximately 61 months. Demographic and clinical information of patients and findings from radiological and serological investigations were retrieved. RESULTS: The frequency of diencephalic involvement in NMOSD patients was 3.4% (five cases). Diencephalic syndrome-associated symptoms observed in this cohort consisted of narcolepsy (n = 2; 40%), hypotension (n = 1; 20%), amenorrhea (n = 1; 20%), and syndrome of inappropriate antidiuretic hormone secretion (n = 1; 20%). These manifestations responded well to NMOSD-associated treatments, i.e., rituximab and azathioprine. CONCLUSION: Although rarely manifested through symptoms suggestive of diencephalic involvement, NMOSD should be considered when encountering patients with the diencephalic syndrome to identify the primary cause of these manifestations.
Subject(s)
Neuromyelitis Optica , Aquaporin 4 , Autoantibodies , Female , Humans , Infant, Newborn , Male , Neuromyelitis Optica/complications , Neuromyelitis Optica/diagnostic imaging , Neuromyelitis Optica/epidemiology , Retrospective Studies , Rituximab , SyndromeABSTRACT
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.
Subject(s)
Humans , Male , Child, Preschool , Astrocytoma/diagnosis , Child Nutrition Disorders/diagnosis , Celiac Disease/diagnosis , Hypothalamic Diseases/diagnosis , Astrocytoma/complications , Chronic Disease , Hypothalamic Diseases/etiologyABSTRACT
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.
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.
Subject(s)
Astrocytoma/diagnosis , Child Nutrition Disorders/diagnosis , Hypothalamic Diseases/diagnosis , Astrocytoma/complications , Celiac Disease/diagnosis , Child, Preschool , Chronic Disease , Humans , Hypothalamic Diseases/etiology , MaleABSTRACT
Young children with emaciation caused by a hypothalamic glioma are considered to have diencephalic syndrome (DS), which is often poorly controlled with conventional treatment. We describe an infant with DS whose tumor progressed following chemotherapy. Biopsy was performed for molecular testing and demonstrated a BRAF fusion. Treatment with the MEK inhibitor trametinib for 18 months resulted in reduction of tumor size, normalization of his weight curve, and marked neurodevelopmental improvement. Our results build on earlier reports of using targeted agents for low-grade glioma, and we review the evolving management strategy for such patients in the era of precision medicine.
Subject(s)
Hypothalamic Diseases/drug therapy , Molecular Targeted Therapy , Protein Kinase Inhibitors/therapeutic use , Proto-Oncogene Proteins c-met/antagonists & inhibitors , Pyridones/therapeutic use , Pyrimidinones/therapeutic use , Disease Management , Humans , Hypothalamic Diseases/metabolism , Hypothalamic Diseases/pathology , Infant , Male , PrognosisABSTRACT
Diencephalic syndrome (DES) is an extremely uncommon occurrence, and approximately 100 cases have been reported. It presents as a failure to thrive in infants and children but rarely occurs in adult population. The characteristic clinical features of DES include severely emaciated body, normal linear growth and normal or precocious intellectual development, hyperalertness, hyperkinesis, and euphoria usually associated with intracranial sellar-suprasellar mass lesion, usually optico-chiasmatic glioma or hypothalamic mass. DES as a presentation of craniopharyngioma is extremely uncommon but can also occur with brain stem mass. Detailed PubMed and MEDLINE search for craniopharyngioma associated with DES yielded only six cases in children below 6 years of age. Thus, we reviewed a total of seven cases including previously published six cases and added additional our own case. Overall, the mean age at diagnosis was 4.15 years with male:female ratio of 4:3, the mean time interval between symptom of DES appearance and final diagnosis was 6.6 months. The most commonly observed symptom of DES was weight loss (85%). The clinical feature, imaging, and management of such rare syndrome along with pertinent literature are briefly reviewed.
ABSTRACT
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.
ABSTRACT
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.
Subject(s)
Humans , Infant , Astrocytoma , Brain Neoplasms , Central Nervous System , Central Nervous System Neoplasms , Diagnosis , Diarrhea , Drug Therapy , Early Diagnosis , Failure to Thrive , Follow-Up Studies , Head , Hydrocephalus , Hypothalamic Diseases , Optic Nerve Glioma , Palliative Care , Retrospective Studies , Seoul , Strabismus , Vomiting , Weight GainABSTRACT
Diencephalic syndrome is a rare condition associated with central nervous system tumors. The most common presentation is secondary failure to thrive with proper caloric intake and no statural impairment. Despite the importance of this syndrome, little is known of its pathophysiology. Some reports have documented changes in human growth hormone and insulin levels at the onset, whereas others have described endocrine disorders of hypothalamic insufficiency resulting from surgery of the tumor. It has been suggested that the hormonal changes described, such as increased human growth hormone and ghrelin or decreased insulin and leptin levels, are related to a patient's BMI. These findings support the role of these 4 hormones as indicators of the patient's nutritional status but not as mediators or potential therapeutic targets of the disease. We report the case of an infant who initially presented with tumor progression and, after chemotherapy, progressive weight gain and reduced tumor size. Because he presented no hormonal deficiencies or obesity after therapy, we were able to analyze his hormonal status uninfluenced by effects of metabolic treatment or excess weight. Although ghrelin and leptin levels have been related to nutritional status, our patient's leptin levels fell when tumor size decreased and weight increased: an extraordinary finding because leptin concentration is expected to increase with weight gain. This paradoxical response suggests that leptin may be dysregulated in diencephalic syndrome or that the diencephalic astrocytoma may have had an effect on leptin secretion.
Subject(s)
Astrocytoma/blood , Hypothalamic Neoplasms/blood , Leptin/blood , Astrocytoma/diagnosis , Biomarkers/blood , Humans , Hypothalamic Neoplasms/diagnosis , Infant , Male , SyndromeABSTRACT
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.
ABSTRACT
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.
Subject(s)
Child , Humans , Infant , Appetite , Brain , Brain Neoplasms , Diagnosis, Differential , Emaciation , Emergency Service, Hospital , Failure to Thrive , Magnetic Resonance Imaging , Parents , Stupor , Third VentricleABSTRACT
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.
Subject(s)
Humans , Infant , Male , Adipose Tissue , Appetite , Brain , Emaciation , Euphoria , Failure to Thrive , Glioma , Growth Hormone , Hypothalamic NeoplasmsABSTRACT
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.
Subject(s)
Child , Female , Humans , Adrenocorticotropic Hormone , Diabetes Insipidus , Exophthalmos , Growth Hormone , Hydrocephalus , Hypopituitarism , Hypothalamus , Hypothyroidism , Optic Nerve , Optic Nerve Glioma , Orbit , Radiotherapy , Retrospective Studies , Strabismus , Thyroid Function Tests , Visual AcuityABSTRACT
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.
