Herein, we report two cases of diencephalic syndrome 2yearold girl and 10monthold boy presenting with severe emaciation. The topic diencephalic syndrome of emaciation you are seeking is a synonym, or alternative name, or is closely related to the medical condition diencephalic syndrome. Classically there is also locomotor hyperactivity and euphoria. Diabetes insipidus is a relatively common one, and others include adiposogenital dystrophy, cachexia with dwarfing, and gigantism. Pdf treatment of diencephalic syndrome with chemotherapy. Our group initially described a series of 9 patients with diencephalic.
Its symptoms are attributed to dysfunctions of the ganglion cell in the nuclear masses forming. Diencephalic syndrome due to astrocytoma in three infants. The diencephalic syndrome ds of infancy is one of the definable causes of failure to thrive. Here in this wellconcealed spot, almost to be covered by a thumb nail, lies the very mainspring of primitive existencevegetative, emotional, reproductiveon which, with more or less success, man has come to superimpose a cortex of inhibitions. Diencephalic syndrome is a rare disorder caused by a tumor that is usually located in the diencephalon, a portion of the brain just above the brainstem. Diencephalic syndrome is a rare neurological disorder caused by a tumor located in the diencephalon, an area of the brain that contains the thalamus and hypothalamus. It is characterized by complex signs and symptoms related to hypothalamic dysfunction. The child at age 2 years had severe emaciation, pallor, nystagmus, and optic atrophy and was found to have a lowgrade astrocytoma in the region of the anterior hypothalamus.
The diencephalon includes the hypothalamus and the thalamus. Synonyms, based on the presumed vasculature involved, include the syndrome of the thalamoperforating pedicle of foix and hillemand, the syndrome of the basilar communicating artery2 o thf percheron,e. Harvey cushing, 1 in his discussion of diencephalic hypophyseal symptomatology, stated. Targeted therapy for infants with diencephalic syndrome. Diencephalic syndrome in childhood craniopharyngiomaresults of german multicenter studies on 485 longterm survivors of childhood craniopharyngioma. Diencephalic syndrome is a rare clinical condition of failure to thrive despite a normal caloric intake, hyperalertness, hyperkinesis, and euphoria usually associated with lowgrade hypothalamic astrocytomas. March 1976 thejournalofpediatrics 439 diencephalic syndrome revisited this report details the histories of five patients with clinical diencephalic syndrome who collectively demonstrate the variability found in the syndrome with respect to.
Both patients had histories of poor weight gain for months despite having good appetites. Diencephalic syndrome of emaciation russells syndrome characteristically presents with the symptoms of marked emaciation in spite of normal linear growth and marked increase of serum growth hormone in infancy and early childhood. Conclusion diencephalic syndrome is a rare cause of failure to thrive in childhood, and diagnosis of a hypothalamic chiasmatic astrocytoma might therefore be delayed. Diencephalon definition of diencephalon by the free. It is caused by a tumour in diencephalon thalamus and hypothalamus, characterised by profound emaciation with uniform loss of body weight despite normal or slightly decreased appetite, locomotor hyperactivity, euphoria and visual symptoms. Diencephalic syndrome is one of the rare causes of failure to thrive in infants and young children. The diencephalic syndrome includes clinical characteristics of severe emaciation, normal linear growth, and normal or precocious intellectual development in association with central nervous system tumors.
Diencephalic syndrome a kids brain tumor cure foundation. Diencephalic syndrome is a rare but potentially lethal cause of failure to thrive in infants and young children. The diencephalic syndrome of infancy was first described in 1951 by russell 12, who reported 5 cases in children with tumors in the region of the anterior hypothalamus. The diencephalic syndrome ds, which is manifested by progressive emaciation and failure to thrive in an apparently alert, cheerful infant, usually is due to a low grade hypothalamic glioma. Diencephalic syndrome is a rare pathological condition in which there is development of a tumor in the brain just above the brainstem. The diencephalic syndrome of early infancy due to silent brain tumor. Radiographic appearance of the soft tissues in the. The diencephalic syndrome of early infancy is a syndrome of paradoxes, the cardinal features being profound emaciation in spite of a good or even voracious appetite, euphoria and motor overactivity in an infant who appears to be in the final stages of a serious illness. The diencephalic syndrome the diencephalic syndrome ingram, t.
We reported an unusual case of diencephalic cachexia due to hypothalamic anaplastic astrocytoma whograde iii. Baseline endocrine function evaluation was performed in this patient. The astrocytomas associated with this syndrome are larger, occur at a younger age, and are often more aggressive than other astrocytomas arising in this region. It also serves as the site of emotions, memory, selfawareness, and thought. Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive ftt because of its rarity and lack of specific symptoms. Changes in body weight, statural growth rate, and puberty may be the presenting symptoms of hypothalamicpituitary tumors. Due to its rarity and relatively nonspecific symptoms, the diagnosis of diencephalic syndrome and associated lesions may. 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. The main clinical features are emaciation, overactivity, pleasant disposition, and aboveaverage height. A case of diencephalic syndrome of emaciation in a 21 month old girl is reported. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. 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. This particular part of the brain where the tumor develops is called as diencephalon and has within it the hypothalamus and the thalamus.
Diencephalic syndromecausessymptomstreatmentprognosis. Diencephalic amnesia and apraxia after left thalamic. Diencephalic syndrome of emaciation russells syndrome. It commonly occurs in association with chiasmatic and hypothalamic gliomas 1. The paramedian diencephalic syndrome is characterized by a clinical triad. We reported an unusual case of diencephalic cachexia due to hypothalamic anaplastic astrocytoma whograde. We describe an infant with ds whose tumor progressed following. Harvey cushing, 1 in his discussion of diencephalichypophyseal symptomatology, stated. A 78 year old right handed hungarian woman presented with memory loss and. The syndrome, as he described it, consists of profound emaciation linked with initial growth acceleration and, in 4 of his 5 cases, with local motor activity and euphoria.
The posterior part of the forebrain that connects the midbrain with the cerebral hemispheres, encloses the third ventricle, and contains the thalamus and. He paramedian diencephalic syndrome is characterized by hypersomnolent apathy, an amnesic syndrome, and abnormal vertical gaze. The writer defines schizophrenia as a diencephalic syndrome. Russells diencephalic syndrome, which is manifested by progressive emaciation and failure to thrive in an apparently alert infant, usually is due to a lowgrade hypothalamic astrocytoma. Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. It produces a very caracteristic syndrome of emaciation, in spite of apparently adquate food intake. Young children with emaciation caused by a hypothalamic glioma are considered to have diencephalic syndrome ds, which is often poorly controlled with conventional treatment. An infant with hyperalertness, hyperkinesis, and failure. Pathological examination confirmed the presence of hypothalamic tumors in both. Diencephalic syndrome nord national organization for. Anatomy and function click the link for more information. The clinical characteristics of paramedian diencephalic syndrome pds are described on the basis of two recently observed cases. A patient in whom severe amnesia and apraxia were the presenting features of a left thalamic infarct is presented. Amnesia and apraxia are unusual manifestations of unilateral thalamic lesions.
Diencephalic syndrome of infantile emaciation archives. A diencephalic syndrome of hyperkinetic emaciation typically linked to predominant elation in infancy and early childhood. Diencephalon the section of the brain that consists of the most anterior in man, the topmost. Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamicoptic chiasmatic region. The enormous size of the tumor of the hypothalamus revealed by pneumoencephalography and pantopaque ventriculography was in contrast to striking lack of neurologic. The normal head circumference despite the severe loss of adipose tissue of the face sometimes gives the impression of a characteristic. The most frequent change in weight is obesity, rarely cachexia. Diencephalic syndrome in childhood craniopharyngioma. Treatment with aggressive surgery andor radiotherapy is. Survival for 12 years of a child with diencephalic syndrome is reported. Diencephalic article about diencephalic by the free. The diencephalic syndrome of early infancy the british. We studied 4 cases with computed tomography evidence of bilateral diencephalic infarctions.
Affected infants and young children may develop symptoms that include the failure to gain weight and grow as would be expected based. The findings support the concept that memory and praxis both utilise circuits which include the dominant thalamus. Diencephalic syndrome, or russells syndrome is a rare neurological disorder seen in infants and children and characterised by failure to thrive and severe emaciation despite normal or slightly decreased caloric intake. The syndrome is characterized by profound emaciation with normal caloric intake, absence of cutaneous adipose tissue, locomotor hyperactivity, euphoria, and alertness 1. The diencephalic syndrome of early infancy is a syndrome of paradoxes, the cardinal features being profound emaciation in spite of a good or even voracious appetite. However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis. Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. Three children with diencephalic tumours are described, and an analysis of 45 cases from the literature together with our own 3 is presented. Diencephalic syndrome is a rare cause of failure to thrive in infancy and early childhood. Whereas the growth rate is frequently decreased by the gh deficiency due to the tumor andor its treatment, it is normal in some patients with the diencephalic syndrome ds of emaciation. Diencephalic syndrome is a rare cause of failure to thrive associated with hypothalamicoptic chiasm region tumors. Diencephalic syndrome ds is characterized by hyperkinesis, progressive weight loss despite normal or increased caloric intake and usually normal linear growth and endocrine function.
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