Two cases of Sturge-Weber disease in a 10 years old female and a 7 years old male were prese-nted. The diagnosis was established by charactristic features of Sturge-Weber disease including facial port-wine nevus, convulsion, typical ???ailread track pattern intracranial calcifications, some degree of mental retardation and hemiplegia. A brief review of related literature was made.
Child ; Diagnosis ; Female ; Hemiplegia ; Humans ; Intellectual Disability ; Male ; Nevus ; Seizures

Stickler syndrome is a genetic disorder characterized by ophthalmologic, craniofacial, audiologic, and joint problems. In this report, we describe a 10-year-old boy presenting with a flat face, high myopia, retinal detachment, arthropathy, short stature, and mental retardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosis of Type 1 Stickler Syndrome.
Child ; Diagnosis ; Humans ; Intellectual Disability ; Joints ; Male ; Myopia ; Retinal Detachment

A case of Sturge-Weber disease in an 8 year old male was presented. The diagnosis was established by characteristic features of Sturge-Weber disease including facial portwine nevus, convulsion, right hemiplegia, intracranial calcification and mental retardation. A brief review of related literature was made.
Child ; Diagnosis ; Hemiplegia ; Humans ; Intellectual Disability ; Male ; Nevus ; Seizures

More school children were referred for learning difficutly (LD), especially after the introduction of LINUS sccreening programme by Ministry of Education Malaysia. To study the clinical diagnosis and non-verbal ability of primary-one school children with LD after paediatric assessment, as well as associated behavioural issues and socio-economincal background. Assessment findings by Paediatricians and Naglieri Non-Verbal Ability Test® (NNAT®) results of all primary-one school children referred in year 2010 with LD were studied retrospectively. Ninety-three children were included (62.4% male), and 72.0% of them failed the LINUS screening programme. The commonest diagnoses were Borderline Intellectual Disability (ID, 37.6%) and Mild ID (19.4%). Other diagnoses included Attention Deficit Hyperactive Disorder (ADHD, 11.8%), Specific Learning Disability (SLD, 10.8%), Autistic Spectrum Disorder (n = 5) and Severe Language Disorder (n = 3). Mean NNAT scores were 84.6 ± 11.8 (n = 85), of which 9.4% children scored less than 70 (<2nd percentile), while 63.7% scored between 71 and 90 (3rd-24th percentile). Twenty-three children(27.1%) scored 90 - 110 (25th-75th percentile) and 111-119 (76th-90th percentile). More than two-thirds of the parents never attended school, or only received education up to Form 3. Nearly 80% of mothers were housewife and 78.7% of fathers were labour or semi-skilled workers. A significant numbers of children with ADHD, Borderline ID, Mild ID and Severe Language Disorder / SLD had significant or borderline internalizing and/or externalizing behaviours.Majority of primary-one school children referred for LD do not have intellectual disability. Their clinical diagnosis and non-verbal ability were very variable. A significant number of them have poor socio-economical background and associated behavioural problems. A more realistic education system and targeted program should be offered.
Learning Disorders ; Attention Deficit Disorder with Hyperactivity ; Intellectual Disability ; diagnosis

Child ; Developmental Disabilities ; diagnosis ; Humans ; Intellectual Disability ; diagnosis ; Male ; Neuronal Ceroid-Lipofuscinoses ; diagnosis

Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect (particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial probe of elastin gene for FISH was supplied and diagnosed this disease easier. Using PCR has some benefits concerning whether the origin of the genetic defect is maternal or paternal. The diagnosis of this disease is difficult due to low sensitivity, below 50%. But FISH is widely used because it is faster with high positive predictibility. We report Williams syndrome diagnosed by FISH with a brief review and related literatures.
Diagnosis ; Elastin ; Heart Defects, Congenital ; Hypercalcemia ; Intellectual Disability ; Phenotype ; Polymerase Chain Reaction ; Williams Syndrome*

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.
Congenital Abnormalities ; Diagnosis ; Exome ; Humans ; Intellectual Disability ; Molecular Biology ; Primary Health Care

We experienced one case of tuberous sclerosis occurred in brothers. Case 1 is 8-year-old male patient who presented seizure, mild mental retardation, subependimal nodule and Shagreen patch. Case 2 is 9-year-old male patient who presented adenoma sebaceum, Shagreen patch, subependymal gient cell astrocytomas. Diagnosis was confirmed by brain CT and biopsy. Brief review and related literatures were also presented.
Astrocytoma ; Biopsy ; Brain ; Child ; Diagnosis ; Humans ; Intellectual Disability ; Male ; Seizures ; Siblings* ; Tuberous Sclerosis*

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Arm ; Child ; Chromosomes, Human, Pair 4 ; Diagnosis ; Female ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Wolf-Hirschhorn Syndrome*

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Arm ; Child ; Chromosomes, Human, Pair 4 ; Diagnosis ; Female ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Wolf-Hirschhorn Syndrome*