Marasmus and the Diencephalic Syndrome

Diamond, Eugene F.; Averick, Nathan

doi:10.1001/archneur.1966.00470090042005

Cited by 16 publications

(7 citation statements)

References 6 publications

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“…The head circumference values of the patients were above normal, probably owing to the presence of hydrocephalus. Onset of failure to thrive in the majority of the reported cases occurred in the first year of life 4 , 5 , 13 , 15 , 16) . In our study, the initial symptom of failure to thrive occurred at an average of 7 months of age.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2015

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PurposeDiencephalic 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.MethodsWe 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.ResultsDiencephalic 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.ConclusionDiencephalic 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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2015

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“…5 Various clinical findings have been associated with DS, but the constellation of FTT, nystagmus, and hyperkinesis with euphoria is considered most suggestive. 6 However, a recent study reported that only 5/9 patients had nystagmus and 3/9 had hyperkinesis. 3 Apart from FTT and recurrent emesis, our patient had none of the previously reported neuropsychiatric symptoms, making diagnosis of DS particularly challenging.…”

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confidence: 97%

Child Neurology: Diencephalic syndrome–like presentation of a cervicomedullary brainstem tumor

et al. 2016

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Diencephalic syndrome is a rare clinical entity, traditionally encompassing severe failure to thrive, nystagmus, and hyperkinesis, secondary to an intracranial neoplasm that is classically located in the hypothalamic region and its vicinity. However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis. This case report describes the atypical presentation of a posterior fossa tumor with features reminiscent of diencephalic syndrome that have not previously been reported in the literature. We report a 21-month-old girl with a cervicomedullary brainstem astrocytoma, who presented with isolated gross motor developmental delay, decreased growth velocity, and stridor. The neurologic signs frequently reported in patients with diencephalic syndrome were absent; however, severe failure to thrive was present. This case broadens the etiologic differential diagnosis of diencephalic syndrome in addition to the traditional hypothalamic region tumor location. This case urges physicians to consider central neurologic processes in the differential diagnosis of children with refractory failure to thrive with or without classical features of diencephalic syndrome, in whom etiology is not identified by routine investigations, given its importance in determining prognosis and management. While failure to thrive (FTT) is a common clinical entity, diencephalic syndrome (DS) is a rare but lifethreatening cause. Russell 1 first described DS in 1951, based on a series of 5 children with hypothalamic neoplasms. Associated signs included profound emaciation, maintained linear growth, locomotor hyperactivity, euphoria, skin pallor, hypotension, and hypoglycemia.1 Other case series have reported nystagmus, visual field defects, headache, and emesis. 2 We report a DS-like presentation of a posterior fossa tumor in a 21-month-old girl, in whom linear growth was not maintained, isolated gross motor delay was present, and significant respiratory symptoms, including chronic cough and stridor, developed.CASE PRESENTATION The patient was born at 36 weeks gestation with no complications. Birthweight was 2.04 kilograms (3rd percentile), length was 46 centimeters (15th-50th percentile), and head circumference was not documented. She was breast and formula fed until 6 months of age, then transitioned to solids, at which point her weight was 5.4 kilograms (,3rd percentile). During this time, she developed recurrent vomiting with minimal response to antireflux medications. She also developed a chronic cough. Her weight gain plateaued after 6 months of age. She was referred to the FTT clinic at 11 months with a weight of 5.95 kilograms (,3rd percentile), height of 68 centimeters (3rd-15th percentile), and head circumference of 44 centimeters (15th-50th percentile). Around 17 months, she developed inspiratory stridor while sleeping. Increasing caloric intake was unsuccessful, and nasogastric (NG) feeds were initiated at 18 months. Despite NG insertion, she continued to experience daily vomiting....

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“…The "diencephalic syndrome of emaciation" was first described by Russell in 1951 (30), since when several cases of the syndrome have been reported (1,2,8,11,15,16,38). The cardinal features, presenting in infancy or early childhood, are extreme emaciation despite an adequate food intake, euphoria and motor hyperactivity, large hands and feet, pallor without anemia and often nystagmus.…”

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confidence: 99%

Studies on Growth Hormone Secretion in a Patient With the Diencephalic Syndrome of Emaciation

Häger

Thorell

1973

Acta Paediatrica

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Summary A girl with a large optic glioma, and the typical features of diencephalic syndrome of emaciation (Russell) was followed up from 1/2 to 2 1/2 years of age. She had very high levels of growth hormone (GH) in the plasma, which were not influenced by hyperglycaemia, by hypoglycaemia or by dexamethasone, reserpine or chlorpromazine. Interference by the glioma with GH releasing factor or more likely with GH inhibiting factor is suggested. In spite of the elevated plasma GH, linear growth was markedly retarded. Sulfation factor activity (Somatomedin) was low with no significant response to injections of HGH. The patho‐genesis of the profound metabolic disturbances in this syndrome is not properly understood. The endogenous GH obviously exerts its full adipokinetic effect, whereas the synthesis of the sulfation factor (Somatomedin) must be defective. This case illustrates a type of retardation of linear growth, not seen in any other known syndrome.

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Marasmus and the Diencephalic Syndrome

Cited by 16 publications

References 6 publications

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

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

Child Neurology: Diencephalic syndrome–like presentation of a cervicomedullary brainstem tumor

Studies on Growth Hormone Secretion in a Patient With the Diencephalic Syndrome of Emaciation

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