Clinical Features of Dietary Protein Induced Proctocolitis / 대한소아소화기영양학회지

PURPOSE: Dietary protein induced proctocolitis (DPIPC) can be considered as a cause of rectal bleeding or blood streaked stool in otherwise healthy-looking infants in the first several months of life. Failure to appreciate this entity may lead to inappropriate diagnostic or therapeutic intervention. This study aimed to ascertain the clinical features, treatment and prognosis of DPIPC. METHODS: We reviewed 13 infants retrospectively, presented with bloody stool in early infancy. They were diagnosed as DPIPC clinically in Pusan National University Hospital from May 2002 to June 2004. RESULTS: Seven males and six females were included. The mean age at onset of bleeding was 96.8+/-58.8 days. The mean frequency of hematochezia was 2.6+/-2.5 times a day. Duration from onset of symptom to diagnosis was 35.5+/-55.0 days and duration from onset of symptom to resolution of bleeding was 58.7+/-67.0 days. Nine (69.2%) were exclusively breast-fed infants and two (15.4%) were formula-fed infants. All but one infant did not have family history of other allergic diseases. A dietary history of ingestion of cow's milk, nut or shellfish was present in three mothers. Peripheral eosinophil count was normal to slightly elevated (total WBC count 10,555+/-3,145/mm3, relative eosinophil count 6.3+/-3.0%, absolute eosinophil count 659.0+/-532.2/mm3). Sigmoidoscopy revealed lymphonodular hyperplasia with surrounding hemorrhagic spots in the rectosigmoid colon in 6 infants. Histopathologic finding of colonic biopsies in 5 infants showed chronic inflammation with lymphoid follicular hyperplasia (5 infants), crypt abscess (3 infants), or mild infiltration of eosinophils (less than 20/high power field) in the lamina propria. Spontaneous resolution of rectal bleeding occurred in all infants without dietary change or medicine. CONCLUSION: Most infants with DPIPC experience a very benign course and have spontaneous resolution of rectal bleeding without changes in the mother's diet. In the case of strong evidence for DPIPC we suggest deferring further invasive investigation and continuing breast feeding.

A Case of Ullrich's Disease

Ullrich's disease is a congenital muscular dystrophy clinically characterized by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. All the patients develop rigidity of spine, often assoicated with scoliosis, failure to thrive, and early and severe respiratory involvement, irrespective of their levels of motor function. Intellectual development is normal. The biopsied muscles show dystrophies including remarkable variation in the fiber size, notably proliferated endomysial connective tissues, and a lot of degenerated and regenerated fibers. The expression of merosin and dytrophin is normal. Recent studies have demonstrated that collagen VI is deficient in the muscles of the patients with Ullrich's disease, and some result from recessive mutations of the collagen VIalpha 2 gene(COL6A2). And a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients is also reported. These results suggest that collagen VI deficiency may lead to the reduction of fibronectin receptors and that any abnormalities of cell adhesion may be involved in the pathogenesis of the disease. A case of Ullrich's disease has not been reported yet in Korea. So, we describe a male patient with Ullrich's disease with a brief review of the literature.

A Role of Routine Lumbar Puncture in Children Presented with Their First Seizure with Fever

PURPOSE: This study was performed to find out the role of routine lumbar puncture in children presented with their first seizure with Fever. METHODS: This study included 220 children, over a 5 year period, from April 1999 to March 2003, who visited or were admitted at Dae Dong Hospital with their first febrile convulsion. Lumbar puncture was performed in all children. We analyzed their age, family history, type of seizure, duration of seizure, cause of fever, and the results of lumbar puncture. RESULTS: In the sex distribution, males(58.6%) outnumbered females(41.4%) and the ratio was 1.2:1. 81.7% of the patients had febrile convulsion from 6 months- to 3 years of age(P<0.05). 30.5% also had family history of febrile convulsion. The types of seizure were generalized tonic-clonic(72.7%), generalized tonic(17.7%), and generalized clonic(6.4 %). For the duration of seizure, 90.4% of the patients were estimated less than 15 minutes(P<0.05). The causes of fever were pharyngotonsilitis(40.5%), gastroenteritis(19.1 %), pneumonia or bronchitis(13.2%), meningitis(11%), otitis media, urinary tract infection, and exanthem subitum. However, 9.1% of the patients were diagnosed meningitis, with 18 of 20 patients under 3 years of age. CONCLUSION: In the first seizure with fever, lumbar puncture is a useful method for meningitis, especially under 3 years of age.

A Case of Familial Hemiplegic Migraine

Familial hemiplegic migraine(FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in 80% and FHM families with cerebellar symptoms in 20%. Half of the known FHM families show genetic linkage to chromosome 19p13, and in these families FHM is caused by missense mutations in a neuronal P/Q type calcium channel alpha-1 subunit gene(CACNA1A gene). Linkages to 1q31 and 1q21-23 have also been established. Other families are linked neither to chromosome 19 nor 1. Clinical variabilities are partially associated with the various types of CACNA1A gene mutations. FHM is distinguished from more frequent migraine types by a clear, dominant inheritance pattern and the relative absense of other headache types. Further investigation of FHM will help to clarify the genetics of more common migraine. We describe a male patient with FHM with a brief review of the literature.

Bile Peritonitis Due to Spontaneous Rupture of Choledochal Cyst iagnosed by Hepatobiliary Scintigraphy in an Infant / 대한소아소화기영양학회지

Choledochal cyst is a congenital anomaly with classic triad of abdominal pain, jaundice and right upper abdominal mass. Bile peritonitis caused by cyst rupture is relatively not rare in infancy. The mechanism of rupture must be epithelial irritation of the biliary tract by refluxed pancreatic juice caused by pancreatico-biliary malunion associated with mural immaturity in infancy, rather than an abnormal rise in ductal pressure or congenital mural weakness at a certain point. We experienced a case of bile peritonitis caused by spontanenous rupture of choledochal cyst in a 10-month-old girl presented with abdominal distension, persistent fever, diarrhea, irritability and intractable ascites. She was presumed as having bile peritonitis by bile colored ascitic fluid with elevated bilirubin level and diagnosis was made by 99mTc DISIDA hepatobiliary scan showing extrahepatic biliary leak. The perforated cyst was surgically removed and the biliary tree was reconstructed with a Roux-en-Y hepaticojejunostomy.

A Case of Congenital Hepatic Fibrosis Accompanied by Renal Tubular Ectasia, Caroli Syndrome and Choledochal Cyst

Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis associated with renal tubular ectasia in a 3-year- old girl, whose chief complaint was abdominal distension. Her liver function test did not reveal any abnormal findings. Hepatosplenomegaly and multiple dilated bile ducts were seen in the abdominal CT scaning. Esophageal varix was not detected by an endoscopic examination. Microscopically, diffuse portal fibrosis and widening with proliferation of blie ductules in the liver specimen and tubular ectasia in renal cortex were seen.

Growth Pattern of Children on Medication with Anticonvulsants

PURPOSE: This study was performed to investigate the growth pattern of epileptic children on medication with anticonvulsants. METHODS: We measured the weight, height and head circumference of 219 epileptic children on medication with anticonvulsants through the review of the medical records, compared these with those of the control group as means of Standard Measurement of Body Growth for Korean Chidren and Adolescence reformed at 1998 and analyzed this data according to sex, age at the start of medication, duration of medication, the cause of epilepsy, the type of seizure and the number of anticonvulsants. RESULTS: The weight and height at the start of medication with anticonvulsants had no difference from those of the control group according to sex, age at the start of medication, the cause of epilepsy, the type of seizure and the number of anticonvulsants, but the head circumference at the start of medication was smaller than that of the control group(P<0.05), especially in children aged 1 to 6 years(P<0.005) and in children with symptomatic epilepsy(P<0.001). The increase of weight, height and head circumference had no difference from those of the control group according to sex, age, duration of medication, the cause of epilepsy, the type of seizure and the number of anticonvulsants. CONCLUSION: The increase of weight, height and head circumference of epileptic children on medication with anticonvulsants had no difference from those of normal children.

A Case of Alternating Hemiplegia of Childhood

Alternating hemiplegia of childhood(AHC) is a rare but clinically distinct syndrome characterized by onset before 18 months of age, frequent attacks of alternating paralysis, nystagmus transient ocular palsies, other autonomic dysfunction, and the development of cognitive impairment and a choreoathetotic movement disorder. The case is a 13 month-old boy who has presented repeated episodes of alternating hemiplegia from the age of 6 months at a frequency of several times per month, which was lasting for two or three days. Ths diagnosis was based on clinical features. Frequently such hemiplegic attacks were accompanied by irratability. He had mental retardation, neurodevelopmental delay, and seizure attacks. EEG, brain MRI, brain MR angiography, and Tc-99m HMPAO-brain single photon emission computed tomography(SPECT) failed to reveal any significant abnormal finding during the hemiplegic attacks. We tried calcium-entry block and flunarizine to relieve the hemiplegic attacks, but the frequency and severity of the hemiplegic attacks were not decreased by flunarizine therapy.

Factors Related to Weight Changes after Valproic Acid Administration in Epileptic Children Treated with Valproic Acid / 대한간질학회지

PURPOSE: Weight gain is a common side effect of valproic acid (VPA) that leads to discontinuation in some patients, but its incidence and correlates have been rarely studied in children. This study was undertaken to investigate factors related to weight changes in children treated with VPA. METHODS: We have analyzed mean weight standard deviation score (SDS) retrospectively and interviewed 39 childhood epileptic patients attending Pusan National University Hospital on VPA monotherapy followed over 36 months. Putative risk factors including sex, age, duration of VPA administration, mean weight SDS score at diagnosis, dose of VPA administration, seizure type (generalized or partial), and etiology (idipathic or symptomatic) were statistically analyzed. RESULTS: Thirty nine children (23 boys, 16 girls) were treated with VPA monotherapy. Mean age of patients at diagnosis was 6.18+/-3.74 years, and mean weight SDS at diagnosis was 0.54+/-1.17. After the administration of VPA, mean weight SDS was significantly increased (p<0.05). Increase in mean weight SDS was significant in children with negative mean weight SDS at diagnosis, idiopathic epilepsy, partial seizure, and also significant in children below 1 year old. Mean weight SDS was well correlated with the dose of VPA administration after 18 months of VPA monotherapy (p<0.05). CONCLUSIONS: Our data indicate that VPA monotherapy significantly increased body weight of patients treated for epilepsy. It will be better, if possible, combination therapy of VPA with other antiepileptic drugs (such as vigabatrin, carbamazepine, gabapentin) which can lead to weight gain.

A Case of Cytomegalovirus Colitis which Occurred During Treatment of Hemophagocytic Syndrome

Cytomegalovirus(CMV) colitis is an important opportunistic infection in immunocompromised individuals. The clinical symptoms are abdominal pain, diarrhea, colonic hemorrhage and perforation. The endoscopic appearance shows three characteristic features with focal or diffuse inflammatory changes, submucosal hemorrhagic spots, and well demarcated ulcers. We experienced a case of CMV colitis in an 8-year-old girl presented with Stevens-Johnson syndrome, vanishing bile duct syndrome and infection-associated hemophagocytic histiocytosis, which developed during chemotherapy with etoposide and dexamethasone for hemophagocytic syndrome. The impaired immunity caused by chemotherapy is the most likely possible cause of CMV colitis in this case. We confirmed this case by endoscopic findings, the presence of cytomegalic cells on mucosal biopsy specimens, immunohistochemistry with monoclonal antibody to CMV antigen, and serologic study, and report with a brief review of the literature.

Factors Related to Weight Changes in Epileptic Children Treated with Vigabatrin

PURPOSE: This study was undertaken to investigate factors related to weight changes in children treated with vigabatrin(VGB). METHODS: We have analyzed mean weight standard deviation scores(SDS) retrospectively and interviewed 35 childhood epileptic patients attending Pusan National University Hospital on VGB monotherapy followed over 36 months. Putative risk factors including sex, age, duration of VGB administration, mean weight SDS score at diagnosis, dose of VGB administration, seizure type (generalized or partial), and etiology(idipathic or symptomatic) were statistically analyzed. RESULTS: Thirty five children(21 boys, 14 girls) were treated with VGB monotherapy. The mean age of patients at diagnosis was 3.21 +/- 4.13 years, and the mean weight SDS at diagnosis was -0.19 +/- 1.09. After the administration of VGB, the mean weight SDS was significantly increased (P0.05). CONCLUSIONS: VGB monotherapy significantly affects weight gain of patients treated for epilepsy. Strategies, such as optimizing diet and establishing an exercise routine, should be devised to help patients avoid weight gain when starting on VGB. It may be prudent to avoid, where possible, combinations of VGB with other antiepileptic drugs(such as valproate, carbamazepine gabapentin) which can lead to weight gain.

A Case of Wernicke's Encephalopathy which Occurred During Chemotherapy in a Child with Acute Myeloblastic Leukemia

Wernicke,s encephalopathy(WE), a neurological disorder caused by thiamine deficiency, is characterized by the triad of ocular symptoms, ataxia, and mental confusion. More than 90% of the cases are observed in chronic alcoholics. Other conditions less frequently associated with WE are anorexia nervosa, prolonged parenteral nutrition, hemodialysis, uremia, hyperemesis gravidarum, gastroplasty for morbid obesity, and acquired immunodeficiency syndrome(AIDS). One of the rare diseases associated with WE is tumors of the lymphoid-hemopoietic systems. We experienced a case of WE in a 15-year-old girl presented with bilateral horizontal nystagmus, bilateral abducens nerve palsy, mental confusion, disorientation, and ataxia after suffering anorexia, persistent vomiting, and watery diarrhea for 30 days following chemotherapy for acute myeloblastic leukemia. The serum thiamine level was 13.4 ng/mL(normal : 18.4-53.1). Brain MR T2-weighted image revealed a high signal intensity lesions bilaterally at the medial thalamus, pons, tectum, mammilary body, lateral wall of third ventricle, and putamen. Bilateral abducens nerve palsy, ataxia, and mental confusion improved dramatically following thiamine 100 mg/day replacement for 4 days. After two monthly follow-up, she was left with a residual fine bilateral horizontal nystagmus. We confirmed this case by clinical symptoms, brain MR findings, low thiamine level, and clinical response following thiamine replacement, and report with a brief review of the literature.

Growth Pattern in Children of Acute Lymphoblastic Leukemia during and after Therapy / 대한소아혈액종양학회지

PURPOSE: Growth impairment and growth hormone deficiency have been reported in children treated for acute lymphoblastic leukemia (ALL). This study was undertaken to investigate the growth pattern in children who have been diagnosed and treated ALL. METHODS: We have studied growth during 5-year period after diagnosis in 29 children with ALL who achieved complete continuous first remission following induction chemotherapy from January 1991 to December 1998 at Pusan National University Hospital. Maintenance chemotherapy was given over two or three years in all patients and 10 received additional prophylactic cranial irradiation at a total dose 1,800 to 2,000 cGy. RESULTS: Mean age of patients at diagnosis was 5.81+/-3.44 years, mean height standard deviation score (SDS) at diagnosis was 0.58+/-0.78. During 1 st and 2 nd year of therapy, mean height SDS was significantly decreased to 0.21+/-0.78 (P<0.05), 0.26+/-0.99 (P<0.05). And these decreased mean height SDS during therapy were gradually returned to the baseline levels within 2 years after the end of therapy. During and after therapy, there were no significantly differences in changes of mean height SDS between a group who had prophylactic cranial irradiation and one who had not. There were also no significantly different changes of mean height SDS according to sex or age at initiation of treatment. CONCLUSION: Our data indicate that chemotherapy significantly affects growth of patients treated for ALL and that effects were almost transitory, whereas radiotherapy at the doses used in this study does not potentiate growth impairment.

A Case of Fibromuscular Dysplasia Associated with Hypertensive Encephalopathy

Fibromuscular dysplasia is the single leading etiology of renovascular hypertension in children. We report an eight-year-old girl who was admitted for generalized tonic seizure with fibromuscular dysplasia of right renal artery. On admission, she presented hypertension and altered mentality. She had suffered from intermittent severe headache for the past year. Renal angiography of right renal artery showed stenosis, beaded pattern and aneurysms. Brain MRI showed multifocal lesions in parietooccipital, periventricular and external capsular area. She was diagnosed as hypertensive encephalopathy due to fibromuscular dysplasia of renal the artery. Renal angioplasty with ballooning catheter was performed. Successful renal angioplasty dropped her blood pressure to normal level and no more headaches has occurred for more than a year after discharge.