• Pediatric Infection and Vaccine
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• v.5 no.2
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• pp.308-312
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• 1998

Mycoplasma pneumoniae infection is usually confined to the respiratory tract but it can cause a variety of extrapulmonary manifestations such as rashes, myalgia, hemolytic anemia, cerebral infarction, transverse myelitis, cerebellar ataxia, Guillain-Barre syndrome and meningoencephalitis. Neurologic complications of Mycoplasma pneumonia have been rarely reported until now. Cerebral infarction as a complication of mycoplasma infection in children has been very rarely reported. In our case, in a young girl with M. pneumoniae infection, a cerebral infarct resulted in persistent and significant neurological dysfunction. We report a 11-year-old girl with cerebral infarction associated with clinical and serologic evidence of Mycoplasma infection.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.149-151
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• 2016

Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical symptoms associated with CM-I, including suboccipital headache, weakness in the upper extremities, facial numbness, loss of temperature sensation, ataxia, diplopia, dysarthria, dysphagia, vomiting, vertigo, nystagmus, and tinnitus. Syncope is one of the rarest presentations in patients with CM-I. There are many hypotheses regarding the causes of syncope in patients with CM-I; however, the mechanisms are not clearly understood. Although surgical decompression for CM-I in patients with syncope has yielded good clinical results in some studies, such cases are rarely reported. We report a case of orthostatic syncope in a patient with CM-I who was treated with surgical intervention.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.32-39
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• 2006

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of ${\beta}$-galactosidase and ${\alpha}$-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized: early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only ${\beta}$-galactosidase deficiency in the lymphocytes and was initially diagnosed as $GM_1$-gangliosidosis type 1. However, further studies revealed the possible defect of ${\alpha}$-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking $GM_1$-gangliosidosis type 1.

• Journal of Korean Medicine Rehabilitation
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• v.28 no.4
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• pp.103-112
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• 2018

Pathological laughing and crying (PLC) is a condition defined by relatively uncontrollable episodes of laughter, crying or both. PLC is an uncommon symptom usually caused by cerebral lesions. Midbrain involvement causing PLC is extremely unusual and the exact mechanism by which this condition develops is poorly understood. We recently experienced a 51-year-old woman who were diagnosed as PLC after midbrain infarction. She was treated by acupuncture, pulsed electromagnetic therapy (PEMT). After 6 weeks treatment, Pathological Laughter and Crying Scale (PLACS), Korean version of the Scale for the Assessment and Rating of Ataxia (K-SARA) are decreased and Korean version of Modified Barthel Index (K-MBI) is increased. Treatment of traditional Korean Medicine could be effective for stoke rehabilitation including post-stroke PLC. And we have considered mechanism of PLC associated with midbrain lesion, dysfunction of cortex-thalamus-hypothalamus-basal ganglia-mesencephalon and faciorespiratory nuclei pathways, cerebro-ponto-cerebellar pathways and damaged serotonergic neurotransmission can cause this based on recent neurobiology of emotion. To define exact mechanism and find effective treatment, further studies are needed.

• Annals of Clinical Neurophysiology
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• v.3 no.2
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• pp.156-159
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• 2001

Miller Fisher syndrome(MFS) has been the focus of conflicting opinions regarding the peripheral versus the central nature of the site of major neural injury. We present our electrophysiological findings in one case of MFS to help clarify the pattern of peripheral nerve injury in this syndrome. A 45-year-old man visited our hospital due to sudden diplopia. Initial examination revealed internuclear opthalmoplegia. The next day, his symptoms rapidly aggravated to complete external ophthalmoplegia, ataxia, and areflexia with hand and foot numbness. Serial electrophysiological studies were performed. The results of brainstem evoked potential(BAEP) and blink reflex were normal in the serial studies. Motor and sensory nerve conduction study(NCS) were normal findings in second hospital day, but ulnar sensory nerve shows no sensory nerve action potential(SNAP) and sural sensory conduction velocity was delayed in 7th hospital day. Our patient's clinical presentation began to improve on 15th hospital day, and his electrophysiologic study showed improvement on 29th hospital day. We believe that all the manifestations of MFS can be explained by the involvement of peripheral nerves without brainstem or cerebellar lesion with the serial electrophysiological studies.

• Journal of Yeungnam Medical Science
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• v.5 no.2
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• pp.87-93
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• 1988

The diagnosis of OPCA could be made clinically with important aid of brain CT scanning, although the definite and conclusive diagnosis only by postmortem pathological determination. We reviewed, clinically and with brain CT examination, 12 cases of patients with OPCA who were admitted to the Yeungnam University Hospital for a recent 5 years. The result were as following. : 1. The distribution of age is from 49 to 72, mainly 50 to 60. Man is more frequent than women at the 4.5 times. 2. The interval period from Sx. onset to diagnosis is 1 year to 6 years. 3. The usual initial Sxs. were dizziness(58%), ataxia(33%), and other less frequent Sxs. were weakness of low extremities, dysarthria, headache and urinary incontinence. The clinical manifestations at the initial diagnosis were cerebellar disturbance(100%), dysarthria(83%), and increased deep tendon reflexes(58%). 4. The results of brain CT finding are like this : ${\cdot}$ the width of cerebellar sulci is more than 1mm, other 4 cases more than 2mm. ${\cdot}$ the width of cerebellar pontine cistern of the patient if usually 3 to 4mm, other 2 cases extended to the 5mm. ${\cdot}$ the A. P and lateral lengths of 4th. ventricle is 4mm and 4 to 8mm respectively. ${\cdot}$ 6 cases of whole patients show coincidentally cerebral atrophy.

• Korean Journal of Biological Psychiatry
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• v.14 no.3
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• pp.184-193
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• 2007

Objectives:There is increasing evidence that the cerebellum plays an important role in cognition and psychiatric symptoms as well as motor coordination. The concept of cognitive dysmetria has been making cerebellar function in schizophrenia the focus of current studies. In other words, disruption in the corticocerebellum-thalamic -cortical circuit could lead to disordered cognition and clinical symptoms of schizophrenia. The purposes of this study were to determine cerebellar dysfunction in male schizophrenic patients semiquantitatively with ICARS and to investigate the clinical and cognitive correlates of ICARS in patients. Methods:We compared the scores of cerebellar neurologic sign using ICARS in 47 male patients with a DSM-IV-TR diagnosis of schizophrenia with 30 gender and age-matched healthy control subjects. The semiquantitative 100-point ICARS consists of 19 items divided into 4 unequally weighted subscores:posture and gait disturbances, kinetic functions, speech disorders and oculomotor disorders. All subjects were also assessed with cognitive function test. Cognitive functions were evaluated by Korean-Mini Mental Status Examination (K-MMSE), Verbal fluency test, and Clock drawing test. The patients were administered Korea version of Positive and Negative Symptom Scale(K-PANSS) to assess the symptom severity. Results:Schizophrenic patients had significantly higher scores on the ICARS than control subjects with posture and gait disturbances, kinetic functions, and oculomotor disorders. They also showed more significant impairments in cognitive function tests than control subjects. There was a significant correlation between ICARS and negative symptoms of patients. In cognitive function test, Clock drawing test was significantly associated with negative symptoms. In addition, Clock drawing test was negatively correlated with the total score of ICARS. Conclusion:In this study, we confirmed that schizophrenic patients have significant impairments in cognitive and cerebellar function, and that those were related with negative symptoms of schizophrenic patients. These results support a role of the cerebellum in schizophrenia. It is meaningful that we used a structured, and reliable procedure for rating neurological soft signs, ICARS. We hope that future prospective studies using a similar design help that rate of neurological sign should have been visible with the progression of illness.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Clinical and Experimental Pediatrics
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• v.53 no.5
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• pp.616-622
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• 2010

Enterovirus 71 (EV71) has been recognized as a frequent cause of epidemics of hand-foot-and-mouth disease (HFMD) associated with severe neurological symptoms. In the spring of 2009, HFMD was epidemic in Korea. Severe cases with complication, including death, have been reported and it has become a public health issue. Most symptomatic EV71 infections commonly result in HFMD or herpangina. These clinical manifestations can be associated with neurologic syndromes frequently. Neurologic syndromes observed in EV71 include meningitis, meningoencephalomyelitis, poliomyelitis-like paralytic disease, Guillain-Barr$\acute{e}$ syndrome, transverse myelitis, cerebellar ataxia, opsoclonus-myoclonus syndrome, benign intracranial hypertension, and brainstem encephalitis. Examinations for EV 71 were performed from the stools, respiratory secretion or CSF of the children by realtime PCR. Gene analysis showed that most of them were caused by EV71 subgenotype C4a which was prevalent in China, 2008. Public health measures including personal and environmental hygiene, must to target daycare centers, kindergartens, and schools where highly susceptible children congregate. To prevent the spread of infection, preschools where transmission persists for more than 2 incubation periods, have been recommended for closure, and trigger criteria for voluntary closure was instituted. During closure, operators are to thoroughly clean the centers before they are allowed to reopen. In addition, parents are advised to ensure that their children adopt a high standard of personal hygiene and to keep the infected child at home until full recovery. Because the outbreaks occur in a cyclical pattern, surveillance system to predict next outbreaks and adequate public health measures to control need to be planned for future. Control of EV71 epidemics through surveillance and public health intervention needs to be maintained in Korea. Future research should focus on understanding of EV71 virulence, identification of the receptor(s) for EV71, development of antiviral agents and development of vaccine.

• Investigative Magnetic Resonance Imaging
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• v.19 no.3
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• pp.186-190
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• 2015

Acute disseminated encephalomyelitis (ADEM) is a demyelinating and inflammatory condition of the central nervous system, occurring predominantly in white matter. ADEM involving the rhombencephalon without affecting the white matter is very rare. Here, we present an unusual case of ADEM involving only the rhombencephalon in a 4-year-old Asian girl. The patient complained of pain in the right lower extremities, general weakness, ataxia, and dysarthria. The initial brain CT showed subtle ill-defined low-density lesions in the pons and medulla. On brain MRI, T2 high signal intensity (T2-HSI) lesions with mild swelling were present in the pons, both middle cerebellar peduncles, and the anterior medulla. The initial diagnosis was viral encephalitis involving the rhombencephalon. Curiously, a cerebrospinal fluid (CSF) study revealed no cellularity, and negative viral marker findings. Three weeks later, follow up brain MRI showed that the extent of the T2-HSI lesions in the brain stem had decreased. After reinvestigation, it was found that she had a prior history of upper respiratory infection. In this case, we report the very rare case of a patient showing isolated involvement of the rhombencephalon in ADEM, mimicking viral rhombencephalitis on CT and MR imaging. ADEM can involve unusual sites such as the rhombencephalon in isolation, without involvement of the white matter or deep gray matter and, therefore, should be considered even when it appears in unusual anatomical areas. Thorough history taking is important for making a correct diagnosis.