• Journal of Genetic Medicine
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• v.17 no.2
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.72-77
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• 2015

Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly increasing. This study tried to analyze the aspects of clinical characteristics and biochemical diagnosis of mitochondrial respiratory chain complex (MRC) defect in Leigh syndrome, using methods of biochemical enzyme assay. Methods: We included total number of 47 patients who satisfied the clinical criteria of Leigh syndrome and confirmed by biochemical diagnosis. All those patients went through muscle biopsy to perform biochemical enzyme assay to analyze MRC enzyme in order to find the underlying cause of Leigh syndrome. Results: MRC I defect was seen in 23 (48.9%) cases taking the first place and MRC IV defect in 15 (31.9%) following it. There were 9 (19.2%) cases of combined MRC defect. Combined cases of type I and IV were detected in 7 (14.9%) patients while type I and V in 2 (4.3%). The onset age of symptom was less than 1 year old in 28 (59.6%). The most common early symptom, observed in 23 (48.9%), was delayed development, but there were other various neurological symptoms observed as well. In regard with the disease progression, 35 (74.5%) patients showed slowly progressive course, the one that progressed continuously but slowly over 2 years of period. As for Maximum motor development, 22 (46.8%) were bed-ridden state, most of them suffering serious delayed development. Patients showed various symptoms with different organs involved, though neuromuscular involvement was most prominent. Delayed development was seen in all cases. Multifocal lesion in brain MRI study was seen in 36 (76.6 %) cases, taking a greater percentage than 11 (23.4%) cases with single lesion. In MR spectroscopy study, the characteristic lactate peak of mitochondrial disease was identified in 20 (42.6%) patients. Conclusions: Further analysis of clinical and biochemical diagnosis on more extended group of patients with Leigh syndrome will enable us to improve diagnostic precision and to understand the natural course of mitochondrial disease.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.266-271
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• 2002

There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome Is a relatively rare autosomal recessive syndrome. The most significant and constant neurologic finding is hypoplasia of the cerebellar vermis. Joubert syndrome is associated with hypotonia, retinal dystrophy, abnormal eye movement, delayed development, abnormal respiratory pattern (neonatal episodic tachypnea or apnea) and nephronophthisis. We report a boy with Joubert syndrome associated with nephrocalcinosis and agenesis of the cerebellar vermis. This patient had also abnormal eye movement, hypotonia, abnormal respiratory pattern, delayed development and chronic renal failure.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.97-101
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• 2020

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

• Journal of Yeungnam Medical Science
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• v.9 no.2
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• pp.427-435
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• 1992

We have experienced a case of infantile nephrotic syndrome confirmed by renal biopsy in a 13-month-old female patient who showed growth and develop mental retardation and persistent proteinuria. She revealed mild eyelid edema, joint laxity, delayed speech development and adrenal cortical calcification on the radiologic study. Renal biopsy showed microcystic tubular change, micro-glomeruli and marked mesangial proliferation.

• Proceedings of the Korea Contents Association Conference
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• 2009.05a
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• pp.1076-1082
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• 2009

This study investigated caregivers' communication styles and children's emotional development. Emotion-laden puzzle tasks were used to elicit caregivers' communication styles while interacting with their children. Participants included children with Down syndrome (N=10) and typical children (N=15) and their caregivers. As expected, caregivers of children with Down syndrome (DS) used more behavior and attention directives with their children, and caregivers of typical children used more conversation-eliciting prompts with their children. Parents of children with Down syndrome also used a unique communication style in which they asked a question and immediately answered it themselves. Additionally, caregivers of typical children focused more on emotion concepts in their communications with their children and caregivers of DS used more cognitive concepts such as labeling colors and shapes. The results revealed that caregivers of children with Down syndrome usually tried to educate children by emphasizing cognitive concepts to compensate for their delayed development. Because the children are delayed in their emotional development, parents may need help in intervening on the area of emotional development.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.29-31
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• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• Clinical and Experimental Pediatrics
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• v.65 no.3
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• pp.142-149
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• 2022

Background: Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction, inadequate postural control, and disturbed proprioception. These factors are responsible for the developmental challenges faced by children with Down syndrome. These individuals also present with balance dysfunctions. Purpose: This systematic review aims to describe the motor dysfunction and balance impairments in children and adolescents with Down syndrome. Methods: We searched the Scopus, ScienceDirect, MEDLINE, Wiley, and EBSCO databases for observational studies evaluating the motor abilities and balance performance in individuals with Down syndrome. The review was registered on PROSPERO. Results: A total of 1,096 articles were retrieved; after careful screening and scrutinizing against the inclusion and exclusion criteria, 10 articles were included in the review. Overall, the children and adolescents with Down syndrome showed delays and dysfunction in performing various activities such as sitting, pulling to stand, standing, and walking. They also presented with compensatory mechanisms to maintain their equilibrium in static and dynamic activities. Conclusion: The motor development of children with Down syndrome is significantly delayed due to structural differences in the brain. These individuals have inefficient compensatory strategies like increasing step width, increasing frequency of mediolateral center of pressure displacement, decreasing anteroposterior displacement, increasing trunk stiffness, and increasing posterior trunk displacement to maintain equilibrium. Down syndrome presents with interindividual variations; therefore, a thorough evaluation is required before a structured intervention is developed to improve motor and balance dysfunction.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.32-36
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• 2016

Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.115-118
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• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.