• Clinical and Experimental Pediatrics
• /
• 제53권12호
• /
• pp.1018-1021
• /
• 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• 제34권2호
• /
• pp.117-124
• /
• 2023

Savant syndrome was described before autism. However, they soon became closely associated, as many of their symptoms (intellectual disability, repetitive behaviors, alterations in social communication, and islets of abilities) overlap. Only a few women with autism have been diagnosed with savant syndrome. The theories or hypotheses that attempt to explain savant syndrome, which are common in autism, present differential treatment according to sex. We postulate that savant syndrome associated with autism as well as autism in general is underdiagnosed in women.

• 대한신경집중치료학회지
• /
• 제11권2호
• /
• pp.134-136
• /
• 2018

Background: Recently, anti-ganglioside complex (GSC) antibodies were discovered among the various subtypes of Guillain-$Barr{\acute{e}}$ syndrome. GSC is the novel glycoepitopes formed by two individual ganglioside molecules. Case Report: We present a 36-year-old man with overlap Miller Fisher syndrome and acute bulbar palsy who had anti-GSC antibody that provided diagnostic robustness. Conclusion: Anti-GSC testing could be considered important in patients who show atypical manifestation with negative antibody reaction against each constituent ganglioside.

• 수면정신생리
• /
• 제18권2호
• /
• pp.63-66
• /
• 2011

It has been controversial whether upper airway resistance syndrome (UARS) is a distinct syndrome or not since it was reported in 1993. The International Classification of Sleep Disorders classified UARS under obstructive sleep apnea syndrome (OSAS) in 2005. UARS can be diagnosed when the apnea-hypopnea index (AHI) is fewer than 5 events per hour, the simultaneously calculated respiratory disturbance index (RDI) is more than 5 events per hour due to abnormal non-apneic non-hypopneic respiratory events accompanying respiratory effort related arousals (RERAs), and oxygen saturation is greater than 92% at termination of an abnormal breathing event. Although esophageal pressure measurement remains the gold standard for detecting subtle breathing abnormality other than hypopnea and apnea, nasal pressure transducer has been most commonly used. RERAs include phase A2 of cyclical alternating patterns (CAPs) associated with EEG changes. Symptoms of OSAS can overlap with UARS, but chronic insomnia tends to be more common in UARS than in OSAS and clinical symptoms similar with functional somatic syndrome are also more common in UARS. In this journal, diagnostic and clinical differences between UARS and OSAS are reviewed.

• Tuberculosis and Respiratory Diseases
• /
• 제80권1호
• /
• pp.11-20
• /
• 2017

Approximately one in four patients with chronic obstructive pulmonary disease (COPD) have asthmatic features consisting of wheezing, airway hyper-responsiveness or atopy. The Global initiative for Asthma/Globalinitiative for chronic Obstructive Lung Disease committee recently labelled these patients as having asthma-COPD overlap syndrome or ACOS. ACOS also encompasses patients with asthma, ${\geq}40$ years of age, who have been cigarette smokers (more than 5-10 pack years) or have had significant biomass exposure, and demonstrate persistent airflow limitation defined as a post-bronchodilator forced expiratory volume in 1 second ($FEV_1$)/forced vital capacity of <70%. Data over the past 30 years indicate that patients with ACOS have greater burden of symptoms including dyspnea and cough and show higher risk of COPD exacerbations and hospitalizations than those with pure COPD or pure asthma. Patients with ACOS also have increased risk of rapid $FEV_1$ decline and COPD mortality. Paradoxically, experimental evidence to support therapeutic decisions in ACOS patients is lacking because traditionally, patients with ACOS have been systematically excluded from therapeutic COPD and asthma trials to maintain homogeneity of the study population. In this study, we summarize the current understanding of ACOS, focusing on definitions, epidemiology and patient prognosis.

• Journal of Interdisciplinary Genomics
• /
• 제2권2호
• /
• pp.13-17
• /
• 2020

Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.

• Annals of Clinical Neurophysiology
• /
• 제11권1호
• /
• pp.33-36
• /
• 2009

Bickerstaff's brainstem encephalitis (BBE) is an autoimmune central nervous system disorder. It can occur in more limited forms and may overlap with Guillain-Barr$\acute{e}$ syndrome (GBS). A 49-year-old female presented with rapidly progressive paralytic ileus, urinary retention, deep drowsiness, ophthalmoplegia, dysarthria, ataxia, quadriparesis and hyporeflexia after viral meningitis. She was diagnosed as BBE with GBS and treated with immunoglobulin. She was completely recovered after 1 month. It is a rare case of BBE overlapping with GBS presenting with severe paralytic ileus.

• Journal of Korean Neurosurgical Society
• /
• 제53권4호
• /
• pp.245-248
• /
• 2013

Guillain-Barr$\acute{e}$ syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy. In typical cases, the first symptoms of GBS are pain, numbness, paresthesia, weakness in the limbs. Autonomic involvement is common and causes urinary retention and ileus. Much of these symptoms overlap with those of lumbar spinal stenosis. Therefore, correct diagnosis of GBS in a patient with symptomatic lumbar spinal stenosis or in a patient with atypical manifestations of GBS can be difficult, especially early in the course of GBS. Here, we report on a case of atypical GBS in a 74-year-old previously healthy patient with lumbar spinal stenosis and discuss the differential diagnosis of the GBS and lumbar spinal stenosis.

• Journal of Yeungnam Medical Science
• /
• 제36권3호
• /
• pp.249-253
• /
• 2019

There is considerable overlap in the clinical presentations of apathy and depression. However, differential diagnosis between apathy and other psychiatric conditions, including depression and dementia, is important. In this report, we present the case of a 67-year-old woman with a history of receiving selective serotonin reuptake inhibitor (SSRI) treatment for depression. Differential diagnosis between treatment-resistant depression and SSRI-induced apathy syndrome was required. The symptoms of her apathy syndrome were relieved after the discontinuation of SSRIs and the addition of olanzapine, methylphenidate, and modafinil. Furthermore, we briefly review related literature in this article.

• Journal of Yeungnam Medical Science
• /
• 제38권1호
• /
• pp.60-64
• /
• 2021

Cushing syndrome (CS) is rare in pregnancy, and few cases have been reported to date. Women with untreated CS rarely become pregnant because of the ovulatory dysfunction induced by hypercortisolism. It is difficult to diagnose CS in pregnancy because of its very low incidence, the overlap between the clinical signs of hypercortisolism and the physiological changes that occur during pregnancy and the changes in hypothalamus-pituitary-adrenal axis activity that occur during pregnancy and limit the value of standard diagnostic testing. However, CS in pregnancy is associated with poor maternal and fetal outcomes; therefore, its early diagnosis and treatment are important. Here, we report two patients with CS that was not diagnosed during pregnancy, in whom maternal and fetal morbidity developed because of hypercortisolism.