Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A nine-day-old female with cerebellar medulloblastoma treated by surgical and radiation therapy is reported. She suffered from vomiting within a few days after birth. Subsequently, her head became enlarged and she was admitted to our hospital. CT scan on admission showed a large mass lesion at the cerebellum expanding to the pineal portion, and marked hydrocephalus. At the age of 14 days, a ventriculo-peritoneal shunt was carried out, and at the age of 67 days, radical resection of the tumor was performed. The histopathological diagnosis was medulloblastoma. Postoperatively, radiation therapy of the brain was carried out. Irradiated dose was 30 Gy on the whole brain and 20 Gy at the location of the lesion. She was discharged at the age of seven months. She remained in good condition with no neurological deficit except for nystagmus. One week later, it was found that she was unable to move her legs and she was readmitted to our hospital. CT scan showed no remarkable change in the intracranial region, but spinal cord swelling was revealed at the Th12-L5 level. Myelography showed a filling defect at the L3-5 level. Radiation therapy of the spinal cord was performed, and the paraparesis gradually improved. However, her general condition was getting worse, and the following CT scan showed intracranial recurrence of the tumor. She deteriorated day by day and at the age of 9.3 months she expired. Brain tumors during the neonatal period are very rare, especially neonatal medulloblastoma. Only 24 cases can be found in the literature.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[A case of neonatal medulloblastoma]. 268 38

Ten survivors of medulloblastoma were examined for residual opthalmological signs. Gaze-evoked nystagmus occurred in six children, four of whom also had pronounced upbeat nystagmus. This is a rare and specific type of nystagmus associated with lesions of the cerebellar vermis and medulla, and has not been described previously as a long-term sequel of medulloblastoma. The recognition of upbeat nystagmus is important because visual acuity may be reduced in upward gaze and difficulties at school may ensue for these children, who may be already intellectually and behaviourally compromised.
 ...
PMID:Nystagmus after medulloblastoma. 292 Aug 72

A 26-year-old man with a recurrent cerebellar medulloblastoma developed periodic alternating nystagmus. During radiation treatment, a bilateral voluntary horizontal gaze paresis appeared, and the periodic alternating nystagmus was replaced by periodic alternating gaze. Several days later, full eye movements returned, as did the periodic alternating nystagmus which had an identical periodicity to the periodic alternating gaze. The underlying pathophysiology of periodic alternating nystagmus and periodic alternating gaze is discussed.
 ...
PMID:The association of periodic alternating nystagmus with periodic alternating gaze. A case report. 621 60

Brain tumors are, after leukemias, the most frequent fatal neoplasms of infancy. The clinical features and symptoms are often markedly different from those observed in the adult forms, according to the peculiar anatomy and behaviour of the child. Persistent headache, vomiting, astenia , behavioral alterations may be the precocious findings. Later, some more specific and suggestive signs such as strabismus, dyplopia , fast head size increase, funduscopic alterations, ataxia, paresis and nystagmus may be observed. On their appearance a prompt diagnostic work-up should be performed. The tumors of the posterior fossa (cerebellar astrocytoma and medulloblastoma, brainstem glyoma , hependimoma in decreasing order of frequency) generally cause precocious symptoms because of the small dimension of the subtentorial space; the presence in this region of several fundamental nuclei and pathways may explain how also small tumors may cause severe deficits. Supratentorial tumors (astrocytoma, malignant glyoma , hependimoma , craniofaringioma ) often show a more prolonged latency and may begin with signs of endocranial hypertension, seizures, or sometimes with hormonal troubles according to the involved anatomic structures. Hypothalamic astrocytoma is responsible of an extreme weight loss as far as to a cachetic status, due to the hyperincretion of GH. Finally, plexus papilloma, dermoid, optic nerve glyoma , oligodendroglyoma , germinoma, teratoma are responsible of a small number of child brain tumors, with different localization and symptomatology.
 ...
PMID:[Clinical course of brain tumors in childhood]. 673 95

A 9-day-old female presented with a large infra- and supratentorial medulloblastoma was treated by surgery, irradiation and chemotherapy. The infant suffered from vomit a few days after birth. She was hospitalized shortly thereafter, when head enlargement was noted. A CT scan taken on admission disclosed a large mass lesion in the cerebellum, extending to the pineal portion, and marked hydrocephalus. At the age of 14 days, the patient underwent ventriculoperitoneal shunting. When she was 67 days old, the tumor was radically resected. The histopathological diagnosis was medulloblastoma. Post operatively, she was irradiated with 30 Gy to the whole brain and 20 Gy to the tumor site. As chemotherapy, ACNU, 1-(4-amino-2-methyl-5-pyrimidinyl-3-(2-chloroethyl)-3-nitrosourea 1 mg/kg was administered twice per 6 weeks. On discharge at 7 months, her only neurological deficit was nystagmus. One week later, she could not move her legs and was readmitted. A CT scan showed no intracranial changes, but the spinal cord was swollen at Th12-L5 level. Myelography demonstrated a filling defect at the L3-5 level. Following irradiation of the spinal cord, the paraparesis gradually improved. However, her general status was deteriorating and a follow up CT scan revealed recurrence of the intracranial tumor. The patient died at the age of 9.3 months which is longer survival time than previous reported one. Neonatal brain tumors are rare, and there have been only 24 cases of neonatal medulloblastoma. The prognosis for these patients is extremely poor, regardless of treatment. Surgery, radiation and chemotherapy for neonatal medulloblastoma are discussed.
 ...
PMID:Neonatal medulloblastoma. 850 20

A 27-year-old female was admitted to our department due to gait disturbance and disorientation. Computed tomography (CT) scan revealed symmetrical ventricular dilatation. She was pregnant at 25 weeks of gestation. At the age of 16 years, she had received a ventriculo-peritoneal (VP) shunt for hydrocephalus, induced by a cerebellar medulloblastoma. Neurological examination at the current admission showed that she was disoriented with ataxic gait and convergence nystagmus. Analysis of the cerebrospinal fluid showed normal cell composition. Magnetic resonance images (MRI) and Thalium-single photon emission tomography (CI-SPECT) revealed no recurrence of the tumor. The radio-isotope shunt flow study showed there was no obstruction of the shunt tube or retardation of intraabdominal diffusion. The patient was diagnosed as having shunt malfunction without obstruction of the shunt tube. We performed pumping of a flushing device for the shunt system. As a result her symptom was gradually improved. The follow-up MRI, 20 days after the using, showed complete disappearance of hydrocephalus. She was discharged from our hospital 1 month later. She continued pumping of the flushing device by herself at home. Three months later, she delivered a healthy infant by vaginal labor. She has not need to do pumping after that. And MRI showed no sign of hydrocephalus.
 ...
PMID:[Ventriculoperitoneal shunt malfunction due to pregnancy]. 1648 64

Paroxysmal reversal of spontaneous nystagmus has rarely been described. Herein, we report recurrent bouts of vertigo and oscillopsia in association with reversed spontaneous nystagmus in a patient with prior surgical resection of the cerebellar vermis due to medulloblastoma and subsequent labyrinthine damage. The symptoms almost completely resolved with carbamazepine. The episodes may be ascribed to paroxysmal reversal of the vestibular asymmetry due to intermittent decompensation by the deficient cerebellum.
 ...
PMID:Paroxysmal alternating nystagmus. 2255 95

Cerebellar cortical biopsies of the peritumoural region of seven patients with cerebellar haemangioma, mesencephalic meningioma, cerebellopontine astrocytoma, cerebellopontine meningioma, and medulloblastoma of cerebellar vermis were examined by means of conventional transmission electron microscopy. Granule cells showed oedematous cytoplasm and mitochondria. Swollen Golgi cells exhibited lipofuscin granules and intranuclear inclusions. Both neuron cell types displayed swollen dendritic digits synapsing with afferent mossy fibre endings. Degenerated myelinated axons corresponding to afferent mossy and climbing fibres and efferent Purkinje cell axons were observed at the granular layer. Dense and clear ischaemic Purkinje cells established degenerated synapses with swollen parallel fibre synaptic varicosities. Degenerated Purkinje cell recurrent axonal collaterals were found at the molecular layer. Swollen and clear Bergmann glial cell cytoplasm was observed closely applied to the oedematous clear and dark Purkinje cell body, dendritic trunk, secondary and tertiary dendritic branches. Swollen climbing fibre endings featured by numerous microtubules and neurofilaments, and a decreased number of synaptic vesicles were observed making degenerated axo-spinodendritic synapses with clear and swollen dendritic spines from Purkinje, Golgi, basket and stellate cell dendrites. Swollen stellate neurons showed oedematous mitochondria. Lipofuscin-rich astrocytes and reactive phagocytic astrocytes were observed. The latter appeared engulfing haematogenous proteinaceous oedema fluid. All cerebellar neurons showed stress endoplasmic reticulum dysfunction featured by focal dilated cisterns and detachment of associated ribosomes. Myelin sheath degeneration was related with oligodendrocyte degenerating hydropic changes. The peritumoural ischaemic cerebellar nerve and glial cell abnormalities were related with neurobehavioral changes, tremor, nystagmus, dismetry and gait disturbance observed in the patients examined. The ultrastructural pathological changes were correlated with the biochemical cascade induced by vasogenic and cytotoxic oedema, altered calcium homeostasis, increased glutamate excitotoxicity, oxidative stress and DNA damage.
...
PMID:Ultrastructural pathology of human peritumoural oedematous cerebellar cortex. 2754 70

Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the following 3 most common tumor types-medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9%-8.3%), with patients having juvenile pilocytic astrocytoma demonstrating the best outcomes. The rate of long-term strabismus (25%-29.1%) and nystagmus (12.5%-18%) is higher and associated with significant morbidity.
 ...
PMID:A Review of Visual and Oculomotor Outcomes in Children With Posterior Fossa Tumors. 2894 23

A 2-day-old Japanese Black male calf that presented with opisthotonos with spastic extension of all four limbs and nystagmus was presented. Evaluation of cranial neurology revealed a horizontal slow nystagmus and absence of menace response in the left eye. Necropsy revealed a mass located between the posterior margin of the cerebrum and anterior margin of the cerebellum, and continuously with the cerebellar lesion. The brainstem was severely compressed by those lesions. Original structures of the cerebellum were mostly replaced by grayish-white and brownish tissues. Those lesions were diagnosed as presumed cerebellar medulloblastoma by histopathological and immunohistochemical examination. As neuron-specific enolase in the cerebrospinal fluid which is a biomarker for neuronal damage was increased compared with healthy calves.
 ...
PMID:A clinical case of presumed cerebellar medulloblastoma in a Japanese Black calf with increased neuron-specific enolase in cerebrospinal fluid. 3274 86


1