An 11-year-old girl was found to have pale complexion and anemia with gradual aggravation for one year. She was weak in the past and developed pneumonia in the right middle lung 3-5 times per year, which was improved after anti-infective therapy. She and her mother had congenital deaf-mutism. Physical examination showed the appearance of anemia, without bleeding, jaundice, hepatosplenomegaly, or lymph node enlargement. Routine blood test results showed reductions in all three blood cell lines, normocytic anemia, and megaloblastoid change in granulocytic and erythroid cell lines in bone marrow, with no obvious increase in primitive cells or metastatic tumor cells. Whole exome sequencing indicated the presence of a known pathogenic mutation for Emberger syndrome (ES), c.1084C>T (p.Arg362*) in the GATA2 gene. The girl was finally diagnosed with ES, and myelodysplastic syndrome (MDS) progressed to acute myeloid leukemia during follow-up. ES is a rare type of MDS with autosomal dominant inheritance in clinical practice, and it is difficult to make a confirmed diagnosis. ES should be considered for children with unexplained lymphedema and congenital deafness, and gene detection should be performed to make a confirmed diagnosis.
Anemia ; complications ; Child ; Female ; GATA2 Transcription Factor ; Humans ; Lymphedema ; Mutism ; complications ; Myelodysplastic Syndromes

Dural injury during spinal surgery can subsequently give rise to a remote cerebellar hemorrhage (RCH). Although the incidence of such injury is low, the resulting hemorrhage can be life threatening. The mechanism underlying the formation of the hemorrhage is not known, but it is mostly thought to develop after venous infarction. Cerebellar mutism (CM) is a frequent complication of posterior fossa operations in children, but it is rarely seen in adults. The development of CM after an RCH has not been described. We describe the case of a 65-year old female who lost cerebrospinal fluid after inadvertent opening of the dura during surgery. Computerized tomography performed when the patient became unable to speak revealed a bilateral cerebellar hemorrhage.
Adult ; Cerebellum ; Cerebrospinal Fluid ; Child ; Female ; Hemorrhage* ; Humans ; Incidence ; Infarction ; Mutism* ; Spine

Cerebellar mutism (CM) is a rare neurological condition characterized by lack of speech due to cerebellar lesions. CM is often reported in children. We describe a rare case of CM after spontaneous cerebellar hemorrhage. The patient showed mutism, irritability, decreased spontaneous movements and oropharyngeal apraxia. Diffusion tensor imaging revealed significant volume reduction of medial frontal projection fibers from the corpus callosum. In Tracts Constrained by UnderLying Anatomy (TRACULA) analysis, forceps major and minor and bilateral cingulum-angular bundles were not visualized. Cerebello-frontal pathway reconstructed from the FMRIB Software Library showed continuity of fibers, with decreased number of fibers on qualitative analysis. These results suggest that cerebello-frontal disconnection may be a neuroanatomical mechanism of CM. Damage of brain network between occipital lobe, cingulate and cerebellum caused by hemorrhage may also have role in the mechanism of CM in our case.
Akinetic Mutism ; Apraxias ; Brain ; Cerebellum ; Child ; Corpus Callosum ; Diffusion Tensor Imaging ; Hemorrhage ; Humans ; Mutism* ; Occipital Lobe ; Stroke* ; Surgical Instruments

After immersion in a foreign language, speakers often have difficulty retrieving native-language words and may experience a decrease in its proficiency, this phenomenon, in the non-pathological form, is known as first language attrition. Self-perception of this low native-language proficiency and apprehension occurring when speaking is expected and, may sometimes lead these people to a state of social anxiety and, in extreme forms, can involve the withholding of speech as a primitive tool for self-protection, linking them to selective mutism. We report an unusual case of selective mutism arising from first language attrition in an Italian girl after attending a two-year "German language school", who successfully responded to a paroxetine-cognitive behavioral treatment (CBT) combination treatment.
Anxiety ; Cognitive Therapy ; Female ; Humans ; Immersion ; Mutism* ; Paroxetine ; Self Concept

Clinical presentation of supplementary motor area (SMA) syndrome includes complete akinesia of the contralateral side of the body and mutism, with secondary recovery of neurologic deficit. Multi-joint coordination is frequently impaired following the development of a brain lesion and is generally restricted by abnormal patterns of muscle activation within the hemiparetic limb, clinically termed muscle synergies. However, no work to date has confirmed this observation with the aid of objective methods, such as gait analysis, and the development of reflex pattern has not been suggested as a possible cause. We describe two unusual cases of flexor synergy after tumor resection of SMA lesions.
Brain ; Brain Neoplasms ; Extremities ; Gait ; Lower Extremity* ; Motor Cortex ; Muscles ; Mutism ; Neurologic Manifestations ; Reflex

INTRODUCTIONSelective mutism (SM) is characterised by limited or a lack of speech in selected social settings. Recent reviews suggest that cognitive-behavioural therapy (CBT) is an effective and promising treatment approach for SM. However, there is still a lack of studies documenting the applicability of CBT for SM in diverse populations. The goal of the present study was to examine the use of a web-based CBT programme ('Meeky Mouse') among Singaporean children diagnosed with SM.

METHODSFive children with SM (one boy and four girls aged 6-11 years) participated in the 14-week 'Meeky Mouse' programme, in addition to being prescribed with an unchanged dosage of fluoxetine 10-20 mg daily. The progress made by the children throughout the course of the programme was documented by the therapist.

RESULTSPost treatment, four out of the five children demonstrated improvements in the frequency of speech during therapy sessions at home, in school and at other social situations.

CONCLUSIONFindings from the present study provide support for the use of a web-based CBT programme in improving speech and decreasing the severity of SM among affected children.

Child ; Cognitive Therapy ; methods ; Female ; Fluoxetine ; therapeutic use ; Humans ; Internet ; Male ; Mutism ; therapy ; Singapore ; Social Environment ; Speech ; Surveys and Questionnaires ; Telemedicine ; methods ; Treatment Outcome ; User-Computer Interface

Locked-in Syndrome is a severe pontine stroke causing quadriplegia, lower cranial nerve paralysis, and mutism with preservation of only vertical gaze and upper eyelid movement in a conscious patient. We present a case of a Locked-in Syndrome patient who received communication training with augmentative and alternative communication equipment by using eye blinks. After 3 weeks of training, the patient was able to make an attempt to interact with other people, and associate a new word by Korean alphabet selection. Augmentative and alternative communication equipment which uses eye blinks might be considered to be beneficial in improving the communication skills of locked-in syndrome patients.
Communication Aids for Disabled ; Cranial Nerves ; Eye ; Eyelids ; Humans ; Mutism ; Paralysis ; Quadriplegia ; Stroke

PURPOSE: To report a case of keratitis caused by Acinetobacter baumannii and Candida parapsilosis in a patient using 0.5% levofloxacin and 0.1% fluorometholone for an extended period of time. CASE SUMMARY: A 55-year-old male patient in the neurosurgery department with conjunctival injection and discharge in his left eye was consulted for ophthalmic evaluation and treatment. He was hospitalized in the state of akinetic mutism and given 0.5% levofloxacin and 0.1% fluorometholone for 2 years. On slit-lamp examination, a 3.5 x 4.5-mm dense stromal infiltrate with an overlying epithelial defect was observed. Corneal scraping culture revealed multidrug-resistant A. baumannii and C. parapsilosis. According to the susceptibility result, the patient was treated with topical 10% piperacillin/tazobactam and 0.125% amphotericin B hourly. The corneal ulcer healed gradually with corneal opacity remaining after 8 weeks of treatment. CONCLUSIONS: The authors of the present study report a case of treated multidrug-resistant A. baumannii and C. parapsilosis keratitis in a patient using topical antibiotics and steroid for an extended period of time.
Acinetobacter ; Acinetobacter baumannii ; Akinetic Mutism ; Amphotericin B ; Anti-Bacterial Agents ; Candida ; Corneal Opacity ; Corneal Ulcer ; Eye ; Fluorometholone ; Humans ; Keratitis ; Male ; Middle Aged ; Neurosurgery ; Ofloxacin

We report an unusual case of probable Creutzfeldt-Jakob disease (CJD) in hemodialysis patient. A woman 59 years of age with a past history of hypertension and end-stage renal disease presented with a stuporous state preceded by rapidly progressive cognitive dysfunction, myoclonus, and akinetic mutism. At first, the cause of the altered mental status was assumed to be uremic or hypertensive encephalopathy combined with fever. Proper managements, however, did not improve the neurologic symptoms. Diffusion-weighted magnetic resonance imaging revealed bilaterally asymmetric high signal intensity in both basal ganglia and cerebral cortices. Electroencephalography showed diffuse generalized theta-to-delta range slow wave and intermittent medium-to-high voltage complexes with a characteristic triphasic pattern on both hemispheres. Cerebrospinal fluid assay for the 14-3-3 protein was positive and diagnostic of CJD.
14-3-3 Proteins ; Akinetic Mutism ; Basal Ganglia ; Cerebral Cortex ; Creutzfeldt-Jakob Syndrome ; Dialysis ; Electroencephalography ; Female ; Fever ; Humans ; Hypertension ; Hypertensive Encephalopathy ; Kidney Failure, Chronic ; Magnetic Resonance Imaging ; Myoclonus ; Neurologic Manifestations ; Renal Dialysis ; Stupor

BACKGROUND: Oriental medicines have been associated with severe psychiatric, neurological, and other adverse medical events. These medicines occasionally cause a typical reversible toxic encephalopathy, but most such cases are not recognized because these adverse events are complex and are associated with other systemic signs and symptoms. CASE REPORT: We describe a married couple with rapid progressive cognitive impairment and akinetic mutism after taking the same oriental medicines on the same day. Brain magnetic resonance images of the couple showed typical leukoencephalopathy in the periventricular white matter and basal ganglia regions, bilaterally. CONCLUSIONS: The development of neurobehavioral symptoms and toxic leukoencephalopathy in both patients following the ingestion of oriental medicines is suggestive of a cause-and-effect association, although such a relationship needs to be verified.
Akinetic Mutism ; Basal Ganglia ; Brain ; Eating ; Humans ; Leukoencephalopathies ; Magnetic Resonance Spectroscopy ; Medicine, East Asian Traditional ; Neurotoxicity Syndromes