Joubert syndrome is a rare hereditary brain malformation and transmitted as an autosomal recessive tarit. This disorder is clinically characterized by episodic tachypnea and apnea, abnormal ocular movements, developmental delay and ataxia. Anatomic anomalies include cerebellar vermal agenesis with dilatation of the fourth ventricle. Symptomatic onset is in the neonatal period and prognosis is severe. We have experienced a case of Joubert syndrome in a 3months old male patient, who manifested by developmental delay, periodic tachypnea and apnea, abnormal eye movement, generalized hypotonia and hypoplasia of cerebellar vermis with the 4th ventricular dilatation on brain MRI. We presented this case with a brief review of literatures.
Apnea ; Ataxia ; Brain ; Dilatation ; Eye Movements ; Fourth Ventricle ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia ; Prognosis ; Tachypnea

Soft-tissue defects over the plantar forefoot, plantar heel, Achilles tendon and distal parts of lower leg are often troublesome to cover with a simple graft or local flap due to limited mobility of surrounding skin and poor circulation in these area. Soft-tissue reconstruction in these regions should provide tissue components similar to the original lost tissue, supply durability and minimal protective pressure sensation and result in a donor site that is well tolerated. We analysed 14 cases that were treated with the instep flap due to soft-tissue defects over these regions from JuL 1990 to Oct. 1995. All flaps were viable and successful at follow-up. 1. The age ranged from 5 years to 70 years, and 13 cases were male and 1 case was female. 2. The sites of soft-tissue loss were the plantar forefoot (l case), plantar heel (9 cases), Achilles tendon (3 cases), and distal part of lower leg (1 case). 3. The causes of soft-tissue loss were simple soft-tissue injury (l case), crushing injury of the 1st toe (1 case), post-traumatic infection and necrosis (11 cases) and traction sore (1 case). 4. The associated injury were open distal tibio-fibular fractures (2 cases), medial malleolar fracture of the ankle (1 case), Achilles tendon ruptures (4 cases) and 1st metatarsophalangeal disarticulation (1 case), open calcaneus fracture (1 case) and femur shaft fracture (1 case). 5. The size of flap was from 3 1 cm to 5 10 cm (average 4 5 cm). 6. We could not find post-operative necrosis and infection, non-viability and gait disturbance caused by the instep flap surgery except limitation of the ankle joint in 1 case. In conclusion, this study demonstrates that the instep flap should be considered as another valuable technique in the reconstruction of these regions.
Achilles Tendon ; Ankle ; Ankle Joint ; Calcaneus ; Disarticulation ; Female ; Femur ; Follow-Up Studies ; Gait ; Heel ; Humans ; Leg ; Male ; Necrosis ; Rupture ; Sensation ; Skin ; Tissue Donors ; Toes ; Traction ; Transplants

Intussusception which is the mot frequent cause of intestinal obstrucsion in childhood, is the invagination of a segment of the gastrointestinal tract into an adjacent segment. Since 1927, barium enema under fluoscopic guidance has been used widely as a therapeutic method. In 1953, Fiorito and Cuestas reported the use of controlled insufflation of air for diagnosis and treatment of intussusception. This method has several advantages than barium enema for diagnosis and treatment, with its simplisity, fast diffusion of air, clear-cut visualization of intussusception, no contraindications, and no interference with the normal physiology of bowel. We compared the results of treatment with barium enema in 117 cases with that of controlled air insu-fflation in 50 cases from January, 1976 to Octover, 1981. The results were summarized as follows 1) Age and sex distribution of the overall cases: 82% of the patients were under 1 year of age(the peak incidence was 4~8 months of age) with the predominence of male(2.2:1). 2) Growth percentile comparing with Korean standard data: 67% of the patient were above 50 porcentile. 3) Seasonal incidence: slight prevalence was noted during spring, but not significant. 4) Etiologic factors: 97% of the patient were idiopathic and only 3% of the cases had organic causes. 5) Cardinal symptoms and signs: abdominal pain and irritability 82%, vomiting 76%, bloody mucous stool 64%, and abdominal mass 50.3%. 6) The most common type of intussusception is ileo-colic. 7) Reduction rate: 68.4% for barium enema and 92% for controlled air insufflation(p<0.01). 8) Recurrence rate: 12.5% for barium enema and 8% for controlled air insufflation. 9) Recurrence interval of overall cases is the most frequently from one month to 6 months after reduction. 10) Perforation: One case with barium enema and 2 cases with controlled air insufflation. 11) Duration and pressure requiring to reduce by controlled air insufflation: 84.8% of cases reduced within 30 min. and the pressure required to reduce was about 61 mmHg to 100 mmHg in 73.9% of cases.
Abdominal Pain ; Barium* ; Child* ; Diagnosis ; Diffusion ; Enema* ; Gastrointestinal Tract ; Humans ; Incidence ; Infant* ; Insufflation* ; Intussusception* ; Physiology ; Prevalence ; Recurrence ; Seasons ; Sex Distribution ; Vomiting

Omphalocele is a rare congenital malformation which is a herniation of the abdominal viscera into the base of the umbilical cord. We experienced a ruptured large omphalocele of short duration which contained of intestines, stomach, liver and speen without major of additional anomalies. He was repaired with the simple skin converage as a part of second staged operation. He had an eventful postoperative course but wad discharged on the 52th postoperative days with the good condition and with the plan of repair of ventral hernia about 1 year. Here, the literature on omphalocele was reviewed with the experienced case briefly.
Hernia, Umbilical* ; Hernia, Ventral ; Intestines ; Liver ; Skin ; Stomach ; Umbilical Cord ; Viscera

Authors had experienced 5 cases of Reye's syndrome in a 15mo. old female patient, 16mo. old male patient, two cases of 4 years old male patients, and 9mo. old male infant who were compatible with this syndrome since Mar. 1976. 2 cases of this patients have been recovered and observed at O.P.D. of ped. Department. Laboratory findings disclosed increased SGOT, SGPT, LDH, blood ammonia levels atthe all cases and decreased FBS and CSF sugar levels. Liver biopsy showed diffuse fatty metamorphosis of hepatic cells. A brief review of the related literaturre was also presented.
Alanine Transaminase ; Ammonia ; Aspartate Aminotransferases ; Biopsy ; Child, Preschool ; Female ; Hepatocytes ; Humans ; Infant ; Liver ; Male ; Reye Syndrome*

OBJECTIVES: Attention deficity hyperactive disorder is known to be a disease with a high genetic trait. Recently the relationship between alleles frequency distribution and ADHD has been actively researched. In Korea, the relationship between the genetic type and alleles for dopamine transporter gene has been studied in ADHD patients. METHODS: Thirty five patients diagnosed with ADHD according to the DSM-IV diagnostic criteria were selected for study. The diagnosis and clinical features were confirmed by korean version Child behavior check list, korean version Conner's parent rating scale, Attention deficit Diagnostic System, korean version Spielberger state-trait anxiety scale etc. For the control group, the parents of patients were chosen. Blood samples were taken from the 105 subjects. DNA was extracted from blood lymphocytes, PCR was performed for dopamine transporter gene. RESULTS AND CONCLUSION: In comparing the ADHD transmitted group and the not transmitted group, significant difference was seen between the DAT1 genetic type and alleles distribution. As a result, it is viewed that there is relationship between ADHD and the dopamine transporter gene. Follow up studies with larger patient or pure subgroups are expected.
Alleles ; Anxiety ; Attention Deficit Disorder with Hyperactivity ; Child ; Child Behavior ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; DNA ; Dopamine Plasma Membrane Transport Proteins* ; Dopamine* ; Follow-Up Studies ; Humans ; Korea ; Lymphocytes ; Parents* ; Polymerase Chain Reaction

OBJECTIVE: The purpose of this study was to compare cognitive flexibility abilities, stress, and anxiety between starters and non-starter athletes. METHODS: A total of 30 male professional-soccer and 40 professional-baseball athletes were recruited. Wisconsin Card Sorting Test (WCST) and Trail Making Test A & B (TMT A & B) were administered to assess cognitive flexibility during competition. The Korean version of the STAI form Y (STAI-KY) and Visual analogue scale for anxiety and stress were used to assess the anxiety and stress. RESULTS: The starter group had better cognitive function (fewer perseverative errors and rapid TMTB times) (Z=3.32, p<0.01; Z=2.20, p=0.03, respectively) and lower stress and anxiety (F=4.34, p=0.01; F=6.61, p<0.01, respectively) during competition than the non-starter group. CONCLUSION: The better cognitive performances were negatively correlated with stress and anxiety. Current results suggested that cognitive flexibility would enhance human performance by modulation of the anxiety and stress during competition.
Anxiety ; Athletes ; Humans ; Male ; Pliability ; Trail Making Test ; Wisconsin

No abstract available.

Ketogenic diet is a high-fat, low-carbohydrate, low-protein diet used in the treatment of epilepsy since 1920's. Recently, it's use for intractable epilepsy in childhood has increased. Complications of ketogenic diet are known to include dehydration, vomiting, diarrhea, renal stones, metabolic derangement, hypercholesterolemia and refusal to eat. We experienced two cases of renal stones in children with intractable epilepsy during ketogenic diet.
Child ; Dehydration ; Diarrhea ; Diet, Protein-Restricted ; Disulfiram ; Epilepsy ; Humans ; Hypercholesterolemia ; Ketogenic Diet* ; Vomiting

This paper presented a case of athyrotic cretinism in a 4 months old female infant. Durring neonatal 7 period she suffered from prolonged jaundice for about 50 days On admission, elinical manifestations suggesting of hypothyroidism were umbilical hernia, feeding problems due to large tongue, respiratory difficulty, lethargy and skin changes Roengenogram of the long bone series revealed the absence of epiphyseal centers of capitates and hamates in the hands, and cuboids in the feet. Thyroid function test also showed 6.5% and 4.1% at 6 hours and 24 hours after I131 uptake respectively, and T 3 value of 25.1ug/dl and T4 of 3.0ug/dl. On thyroid scan, no evidence of activity of thyroid gland was noted. Complete absence of thyroid tissues on autopsy of this baby confirmed the diagnosis of athyrotic cretinism. The review of the literature Concerning the Congenital hypothyroidism were made briefly.
Autopsy ; Congenital Hypothyroidism* ; Diagnosis ; Female ; Foot ; Hand ; Hernia, Umbilical ; Humans ; Hypothyroidism ; Infant ; Jaundice ; Lethargy ; Skin ; Thyroid Function Tests ; Thyroid Gland ; Tongue