Agnogenic myeloid metaplasia (AMM) is a myeloproliferative disorder characterized by leukoerythroblastosis, tear-drop erythrocytes, extramedullary hematopoiesis with hepatosplenomegaly, and varying degrees of myelofibrosis. The mean age at presentation is about 60 years, and pediatric cases are rare. We experienced a case of AMM in a 9 months old female who was presented with pallor, huge splenomegaly and intermittent fever. Peripheral blood showed leukoerythroblastosis poikilocytosis, and tear drop cells. Bone marrow was difficult to aspirate, and biopsy specimen showed increased reticulin with decreased cellularity, which was compatible with myelofibrosis. We presented a case of AMM with brief review of the literatures.
Biopsy ; Bone Marrow ; Erythrocytes ; Female ; Fever ; Hematopoiesis, Extramedullary ; Humans ; Infant ; Myeloproliferative Disorders ; Pallor ; Primary Myelofibrosis* ; Reticulin ; Splenomegaly

Alpasia cutis congenita is an anomaly characterized by absence of localized areas of the integument. The most common type of aplasia cutis congenita is Aplasia cutis congenita limited to the scalp, although other areas of the body may also be involved. We experienced a case of aplasia cutis congenita in a male newborn infant. The skin defects were extensive with symmetrical involvement of lower extremities. The multiple bullae were found on the both fingers and toes. No similar conditions and other associated congeital anomalies were found in the family membes of this particular case. The light microscopic examinaton of the denuded skin areas how absence of epidemis and the demis contain atrophic and hypoplastic adnexa. The bullae have a split within the dermis below lamina densa on electron microscopy. The skin defects were healed by supportive therapy for 4weeks.
Dermis ; Ectodermal Dysplasia* ; Epidermolysis Bullosa* ; Fingers ; Humans ; Infant, Newborn ; Lower Extremity ; Male ; Microscopy, Electron ; Scalp ; Skin ; Toes

Fetal hydrops is often serious and associated with a high perinatal motality rate. Cardiac causes of fetal hydrops include congenital heart diseases and rhythm disturbances. An irregular fetal heart rate may indicate atrial fibrillation and atrial flutter with variable AV conduction. Fetal atrial flutter is characterized by the pressence of flutter waves which are regular sawtooth undulations in the baseline that are larger than p waves. Authors experienced a case of fetal atrial flutter with hydrops fetalis at 30 week's gestation which was confirmed by fetal M-mode echocardiogram and electrocardiography. A new born infant had shown to have atrial flutter in utero and after delivery was successfully converted to normal sinus rhythm with digoxin and quinidene.
Atrial Fibrillation ; Atrial Flutter* ; Digoxin ; Edema* ; Electrocardiography ; Female ; Heart Diseases ; Heart Rate, Fetal ; Humans ; Hydrops Fetalis* ; Infant ; Pregnancy

The characterization of genetic variation at the level of DNA has generated significant advances in gene mapping and disease diagnosis, and forensic identification of individuals. It is now possible to identify individual DNA from various tissue specimens, like hair, using the PCR and oligonucleotide probes. To date, however, the number of hairs needed, the preservation conditions, and the kinds of hair suitable for DNA extraction have not been well known. We performed DNA extraction using hairs from different body sites, using different numbers of hairs, under various different preservation conditions to investigate the acquisition conditions of DNA data from hair using PCR and specific HLA-DQA probe. HLA-DQA genotyping of DNA extracted from peripheral blood was performed to compare the results of hair and blood HLA-DQA genotyping from individuals. The results are as follows: 1) The concentration of DNA extracted from a single strand of hair is 5.23+/-0.54 g/ml. It is possible to extract sufficient DNA for HLA-DQA genotyping from a single strand of hair. 2) DNA concentration is different according to body site. Concentrations are 7.01+/-0.33 g/ml in scalp hair, 6.28+/-0.29 g/ml in axillary hair, and 6.10+0.24 microgram/ml in pubic hair. 3) There is no difference between the electrophortic bands resulting from DNA extracted from the hair of an individual preserved under different conditions, such as room temperature, exposure to sunlight, exposure to low temperature (+4degrees C), or exposure to moisture. 4) There is no difference between the electrophoretic bands resulting from DNA extracted from hair of a single individual preserved for different lengths of time. 5) In an individual, the HLA-DQA genotype obtained from peripheral blood is identical to that obtained from hair. Even though the amout of DNA obtained from hair is limited, it is possible to identify the HLA-DQA genotype of an individual using a single strand of hair. This requires adequate extraction of DNA for PCR analysis using an allele specific probe. We believe that HLA-DQA genotyping using the PCR method on DNA extracted from hair is useful for disease diagnosis and forensic science.
Alleles ; Chromosome Mapping ; Diagnosis ; DNA* ; Forensic Sciences ; Genetic Variation ; Genotype ; Hair* ; Oligonucleotide Probes ; Polymerase Chain Reaction* ; Scalp ; Sunlight

Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a nephropathy. The nephropathy may be associated with either genital abnormalities or Wilms' tumor, and these associations are called incomplete form of Drash syndrome. This syndrome appears early in life and the first sign usually is genital ambiguity. The nephropathy presents with proteinuria, hematuria and hypertension, and eventually progresses to end stage renal failure. Renal biopsy may reveal a variety of glomerular and interstitial changes. Wilms' tumor may appear as s mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. We report on a boy with nephropathy and genital abnormalities. A nephrotic syndrome with hypertension was present when first seen at 15 days of age. The karyotype was 46, XY and external genitalia was ambiguous. The nephrotic syndrome and signs of renal insufficiency persisted and he died at the age of 40 days. Histopathologic findings of kidney at autopsy revealed those of diffuse mesangial sclerosis. The case was presented with brief review of literatures.
46, XY Disorders of Sex Development ; Autopsy ; Biopsy ; Denys-Drash Syndrome* ; Disorders of Sex Development ; Genitalia ; Hematuria ; Humans ; Hypertension ; Karyotype ; Kidney ; Male ; Nephrectomy ; Nephrotic Syndrome ; Proteinuria ; Renal Insufficiency ; Sclerosis ; Ultrasonography ; Wilms Tumor

Much has been learned of the pathogenesis and pathophysiology of the toxic shock syndrome (TSS) since the initial description in 1978 by Dr. James K, Todd. The clinical illness is defined by the criteria listed in the case definition formulated for epidemiologic studies. With the advent of widespread recognition of TSS, there have been numerous published reports describing the clinical and laboratory findings, primarily in menstruating females. And there have been also reported about six cases in Korea. Moreover, TSS is uncommon in the prepubertal age group and no case report in infant in Korea. We experienced two cases of TSS in infants aged 11/2 yrs and 9 months associated with respiratory infection-pneumonia, pyopneumothorax and localized skin abscess that were confused with Kawasaki disease (KD). The diagnosis was made on the basis of clinical features and laboratory findings, and the cases met the Centers of Disease Control case definition of TSS. And thus we report these cases and review related literatures.
Abscess ; Diagnosis ; Female ; Humans ; Infant* ; Korea ; Mucocutaneous Lymph Node Syndrome ; Shock, Septic* ; Skin

A synophthalmia, another form of cyclopia, in which the element of the two eyes are partially fused to form an apparently single eye in the middle of the forehead. The synophthalmia is a result of complex, neural plate misdevelopment syndrome involving the eye, brain, skull and face. It is well known that synophthalmia is due to heterogenous causes, most of which chromosomal imbalances. We experienced a case of synophthalmia associated with proboscis, alobar holoprosencephaly and chromosomal anomaly 46, XX, -15,t (15 q, 21 q). Diagnosis was confirmed by brain MRI and autopsy, The patient died about 20 hours of age and autopsy was done. A brief review of the literatures was also presented.
Autopsy ; Brain ; Diagnosis ; Forehead ; Holoprosencephaly ; Humans ; Magnetic Resonance Imaging ; Neural Plate ; Skull

Aneurysms of the coronary arteries are rare. They may be due to atheroselerosis, mucocutaneous lymph node syndrome, mycotic emboli, syphilis or trauma and occasionally they are congenital. The prognosis appears to be poor and death can occur suddenly from rupture of the aneurysm, peripheral coronary embolism or bacterial endocarditis. Recently surgical treatment has been successful. In a 5 year old patient with ventricular septal defect, two aneurysmal sacs located at the cardiac crux and just posterior to it was proved by coronary angiography and MRI, and successfully excised at operation.
Aneurysm* ; Child, Preschool ; Coronary Angiography ; Coronary Vessels* ; Embolism ; Endocarditis, Bacterial ; Heart Septal Defects, Ventricular ; Humans ; Magnetic Resonance Imaging ; Mucocutaneous Lymph Node Syndrome ; Prognosis ; Rupture ; Syphilis

We reviewed the clinical features, histrologic patterns and clinical courses of 30 children with lupus nephritis retrospectively, and the results were summerized as follows; 1) The male to female ratio was 1:2.8, and the mean age at the onset was 10 8/12 years. 2) The clinical symptoms were diverse, and malaise, weight loss, anorexia, fever and malar rash were the most frequent findings. 3) Among the immunologic tests, FANA and anti-ds-DNA test revealed the highest sensitivity with positive rates of 97% and 87%, respectively. 4) Clinically, 57% of patients had active nephrotic syndrome at the onset, and 33% showed (?) was the most common findings (70%). 5) During the follow-up period, one children with Class IV lupus nephritis expired. And 8 out of 9 cases with renal insufficiency at the onset showed improvement of renal function after treatment with corticosteroid and cytotoxic agents. In conclusion, the clinical features and histologic findings of lupus nephritis in children were diverse. Early diagnosis and proper treatment can prevent rapid deterioration of renal function and improve long-term survival rate.
Anorexia ; Child* ; Cytotoxins ; Early Diagnosis ; Exanthema ; Female ; Fever ; Follow-Up Studies ; Humans ; Immunologic Tests ; Lupus Nephritis* ; Male ; Nephrotic Syndrome ; Renal Insufficiency ; Retrospective Studies ; Survival Rate ; Weight Loss

In 1,146 term neonates without perinatal problems who were born in Kwangju Christian Hospital, blood TSH levels were measured by immunoradiometric assay. In 397 term neonates among them, blood T4 levels were measured by radioimmunoassay in same specimens. 1) In normal neonates aged 3~5 days, 6~10 days, 11~20 days and 21~28 days, the TSH levels were 8.88+/-5.21(mean+/-SD), 9.44+/-5.16, 9.69+/-4.98, 11.96+/-3.75 IU/ml and the T4 levels were 11.41+/-2.79, 11.37+/-2.82, 11.19+/-2.63, 10.51+/-2.99 g/dl respectively. 2) No significant sex difference in TSH level was found in each age group, and TSH level did not correlate with birth weight. In neonates delivered by Cesarean section, TSH levels were lower than those of the normally delivered. 3) T4 levels did not differ between both sexes, and between types of delivery in each age group, and nor did it correlate with birth wweight 4) If the recall rate should be set at 0.2% of the total, TSH levels above 26.9 IU/ml would be required to recall for serum sampling. TSH level above 2 SD was 19.7 IU/ml. Cutoff points of T4 levels at 1.5 SD and 2 SD were 5.8 and 7.2 g/dl respetively, and the lowest 10th percentile was 7.4 g/dl.
Birth Weight ; Cesarean Section ; Female ; Gwangju ; Humans ; Immunoradiometric Assay ; Infant, Newborn* ; Mass Screening* ; Parturition ; Pregnancy ; Radioimmunoassay ; Sex Characteristics