Colonoscopic diagnosis and reduction of recurrent intussusception owing to Henoch-Schönlein purpura without purpura.

About 50-75% of patients with Henoch-Schönlein purpura (HSP) develop gastro-intestinal symptoms with surgical complications such as intussusception occurring in 0.7-13.6%. In 10-40% of patients, however, gastro-intestinal manifestations may precede the onset of purpura. In patients with gastro-intestinal tract involvement without purpura, confirming the diagnosis of HSP and determining the appropriate treatment remains difficult. A seven-year-old boy presented with recurrent intussusception owing to HSP without purpura. It was confirmed pathologically and treated via colonoscopy. Early colonoscopic intervention can contribute to the early diagnosis of HSP and its subsequent management by avoiding unnecessary surgical invasion.

Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method.

AIM: To examine clinical characteristics of Kawasaki disease (KD) in infants younger than 3 months of age and to develop a method for detecting KD in febrile infants. METHOD: In a case-control study, we retrospectively collected clinical and laboratory data from 24 KD infants younger than 3 months of age out of 410 KD patients. We then compared younger infants with both older patients and febrile infants with respiratory syncytial virus (RSV) infection and urinary tract infections (UTI). RESULTS: The frequency of incomplete KD was higher in the younger group than in the control group (79% vs. 36%, P < 0.0001). Furthermore, before treatment, the incidence of coronary artery lesions (CAL) was significantly higher in the younger group (29% vs. 3.9%, P = 0.0001), resulting in a higher incidence of coronary artery sequelae (21% vs. 3.4%, P = 0.0023). Our results revealed that the serum N-terminal prohormone of brain natriuretic peptide (NT-proBNP) level of KD patients was higher than that of RSV and UTI patients (3110 ± 2076 vs. 698 ± 436, P = 0.0001; and 971 ± 589 pg/mL, P = 0.0002, respectively). Thus, NT-proBNP might be suitable as a diagnostic marker of KD in young infants (P = 0.0005, criterion values: 1555 pg/mL [sensitivity: 80%, specificity: 85%]). CONCLUSION: Kawasaki disease infants younger than 3 months of age appear to be at higher risk for incomplete KD and early-onset CAL prior to the appearance of coronary artery sequelae. We suggest performing an echocardiogram and evaluating NT-proBNP in young infants with fever that has lasted longer than 2 days, regardless of the presence or absence of manifestations associated with KD.

Venous thromboembolism in two adolescents with Down syndrome.

Kurokami T, Takasawa R, Takeda S, Kurobe M, Takasawa K, Nishioka M, Shimohira M. Venous thromboembolism in two adolescents with Down syndrome. Turk J Pediatr 2018; 60: 429-432. Although venous thromboembolic events are relatively rare in children, they are an increasingly recognized clinical entity in pediatric tertiary care hospitals. Although vascular disorders are prevalent with Down syndrome, it remains unclear whether Down syndrome patients are at higher risk for venous thromboembolic events. We report two adolescent cases with Down syndrome who unexpectedly developed venous thromboembolism in a general care unit. Our cases had a few risk factors; laparoscopic radical surgery for Hirschsprung's disease with central venous catheterisation in Case 1, and bacterial hepatic abscess in Case 2. Despite preventive heparinization with catheterisation and minor surgery in Case 1 and non-sepsis in Case 2, bed rest for only a few days triggered sudden onset of deep vein thrombosis in lower limbs with pulmonary thromboembolism in both cases. We speculate that the characteristics of Down syndrome, including physical and behavioural problems, might cause venous thromboembolic events. Thus, we should pay more attention to the relationship specifically between venous thromboembolism and Down syndrome, especially in adolescents, and increase prevention, early detection and treatment efforts.

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.

1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. Deletions in the 1p36 region have been documented in various tumor tissues, which indicates correlation between loss of heterozygosity of 1p36 and tumor development, and the existence of tumor suppressors in this region. Therefore, it was suspected that patients with 1p36 deletion syndrome have a higher risk of tumor development; however, only a few child cases of neuroblastoma with 1p36 deletion syndrome have been reported. We report the first case of 1p36 deletion syndrome with paraganglioma (PGL) and include genetic investigation. The 24-year-old woman with 1p36 deletion syndrome had severe intellectual disability, dilated cardiomyopathy, and distinct dysmorphic features, and presented with persistent vomiting accompanied by hypertension (178/115 mmHg). Abdominal CT revealed a 40 × 50 mm retroperitoneal mass and substantial elevations of plasma and urine norepinephrine (15.4 nmol/L and 1022 µmol/mol creatinine, respectively); abnormal uptake of 123 I-MIBG in the tumor led to PGL diagnosis. The patient was not able to have surgery because of substantial surgical risks; however, a combination of α- and ß-blockade was effective for blood pressure control. Array CGH revealed a deletion over 4.5 Mb, from the 1p telomere but excluding the SDHB region. Comprehensive mutational analysis of PGL-associated genes (RET, VHL, TMEM127, MAX, and SDHA/B/C/D) was negative. These results indicate that the germline 1p36 deletion might be "1st hit" of tumor development, and PGL might be a novel complication of 1p36 deletion syndrome. © 2016 Wiley Periodicals, Inc.

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2. Most cases exhibit both growth hormone deficiency (GHD) and growth hormone insensitivity (GHI) and thus require a high dose of growth hormone (GH) therapy (e.g., 35-40 µg/kg/day). We report on a genetically diagnosed NS/LAH patient manifesting severe short stature (-3.85 SDs) with low serum level of IGF1, 30 ng/ml. The peak levels of GH stimulation tests were within the normal range, and GHI was not observed in the IGF1 generation test. However, with low-dose GH therapy (25 µg/kg/day) for two years, IGF1 level and height were remarkably improved (IGF1: 117 ng/ml, height SDs: -2.20 SDs). Further, catch-up of motor development and improvement of the proportion of extending limbs to trunk were observed (the Developmental Quotient score increased from 68 to 98 points, and the relative sitting height ratio decreased from 0.62 to 0.57). Our results suggest that endocrinological causes for short stature are variable in NS/LAH and that GH therapy should be considered as a possible treatment for delayed development in NS/LAH.

Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A.

Xeroderma pigmentosum (XP), a genetic disorder in DNA nucleotide excision repair, is characterized by skin hypersensitivity to sunlight and progressive neurological impairment. Laryngeal dystonia and vocal cord paralysis are complications that can arise in older XP group A (XPA) patients. We report three patients with XPA being administered low-dose levodopa (0.3-1.5 mg/kg/day) for laryngeal dystonia. Patients were aged from 13 to 18 years, exhibited paroxysmal choking and inspiratory stridor, and were diagnosed with laryngeal dystonia. Two XPA patients responded to low-dose levodopa, and paroxysmal choking and involuntary movements resolved, although one of the two patients showed incomplete resolution due to suspected vocal cord paralysis. The other patient was unable to tolerate the medication because of a transient decrease of muscle tone in the extremities. We previously reported a decreased immunostaining of dopaminergic (DA) terminals in the basal ganglia of XPA patients, which may be involved in laryngeal dystonia. Low-dose levodopa has been reported to alleviate DA receptor supersensitivity in tic patients, while laryngeal dystonia occurs in patients with tardive dyskinesia caused by DA receptor supersensitivity. Thus, low-dose levodopa may improve laryngeal dystonia by alleviating DA receptor supersensitivity in XPA patients. We recommend that low-dose levodopa be used for treatment of paroxysmal respiratory disturbances and/or involuntary movements in XPA patients.

[The secondary headache in dentistry].

This report summarizes the secondary headache attributed to dental disease. Among a lot of dental diseases, the temporomandibular disorder(TMD) is the most important for understanding the mechanism of this type of headache. Our recent study showed that TMD patients had the following symptoms: dysdiadochokinesia, abnormal induced-rigidity in forearms, abnormal circadian rhythm, tension-type headache and mental torment. All these abnormal symptoms were relieved by the improvement of the patient's sleep-quality. The brain monoaminergic systems are known to be related to muscle tonus, sleep problems and mental symptoms. Our studies of a serotonin transporter(5-HTT) gene promoter polymorphism showed that the L and XL alleles were more frequent and S allele was less frequent in the TMD compared to the controls. We speculate the brain monoaminergic systems play the important pathophysiological roles on the TMD.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.

The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36. Nine patients had an apparently normal karyotype with standard G-bands by trypsin using Giemsa (GTG), but FISH screening with the highly polymorphic genetic marker D1Z2, which is mapped to 1p36.3 and contains an unusual reiterated 40-bp variable number tandem repeat, revealed a submicroscopic deletion. All patients had severe to profound mental retardation. Based on the University of California Santa Cruz Genome Browser, we constructed a deletion map and analyzed the relationship between neurological findings and chromosomal deletions for the 11 cases. Six cases had intractable epilepsy and three had no seizures. The common deletion interval was about 1 million base pairs (Mbp) located between RP11-82D16 and RP4-785P20 (Rho guanine exchange factor (GEF) 16). The severity of clinical symptoms correlates with the size of the deletion. This is demonstrated by the 3 patients with at least 8Mbp deletions that display profound mental retardation and congenital heart defects. Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome.

Systemic growth hormone corrects sleep disturbance in Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly syndrome characterized by an interstitial deletion of chromosome 17p11.2. Sleep problems such as nocturnal awakening and abnormality in the percentage of rapid eye movement (REM) sleep are frequently observed in patients with SMS, and several medications have been administered to improve the sleep disorders. Here we present a female case of SMS showing early waking and reduction of REM sleep, which were corrected by human growth hormone (GH) replacement for her dwarfism. Also, we report changes in the sleep-wakefulness circadian rhythm and polysomnographical data before and after the start of human GH replacement. It is speculated that GH deficiency could be involved in sleep disturbance in SMS.

Rapid-eye-movement sleep in jittery infants.

BACKGROUND: The pathogenesis of neonatal jitteriness (JT) remains unknown. Neonatal JT could be one of the symptoms associated with drug withdrawal syndrome due to maternal medication. To study the influence of chemicals and environment on brain development in the fetal period, Swaab and Mirmiran proposed "behavioral teratology". JT could be one of the targets for this concept. Swaab and Mirmiran postulated that rapid-eye-movement sleep (REM sleep) is useful for studying behavioral teratology. AIM: We aimed to determine the neurophysiological alterations in infants with JT by investigating REM sleep. STUDY DESIGN: Sleep records were obtained three times for each of six jittery infants. The mothers of three infants had been on medication (either alpha-methyl dopa, reserpine or haloperidol) during pregnancy, whereas the mothers of the other three infants took no medication during pregnancy. REM sleep parameters (the amount of REM sleep against the total sleep time, newly designated indices-tonic inhibition index (TII) and phasic inhibition index--, and the incidences of gross movements, phasic chin muscle activity (PCMA), and bursts of rapid eye movements) in the six jittery infants were compared with those in age-matched controls. RESULTS: Regardless of maternal medication, TIIs, which represent the shortening of PCMA during REM sleep, were higher in the jittery infants than in the controls. No other REM sleep parameters showed constant differences between the patients and controls. CONCLUSION: Release of the blockade of dopamine D2 receptors in the fetal brain is considered to be critical for the occurrence of neonatal JT with elevation of TII. Since the abnormal elevation of TII continued after 6 months of age when our patients did not show JT anymore, we have to keep monitoring jittery infants from the standpoint of "behavioral teratology".