Infantile polyarteritis and Kawasaki disease.

Polyarteritis in infancy is very rare, difficult to diagnose and invariably fatal. A 6-month-old girl who presented with a prolonged unexplained fever and was subsequently demonstrated at post-mortem examination to have polyarteritis is described. The combination of polyarterits with some unusual presenting features suggests that the case described is one of the Mucocutaneous Lymph Node Syndrome (M.L.N.S.) or Kawasaki Disease. Polyarteritis and Kawasaki Disease are discussed with reference to the case described.     

Infantile Kawasaki disease and peripheral gangrene

We report a 1-month-old infant with Kawasaki disease and peripheral gangrene. We advocate using the newly published American Heart Association guidelines advising early laboratory and echocardiogram investigations in infants with fever but without other classic manifestations of Kawasaki disease. Initiation of early therapy may prevent this serious complication with its permanent sequelae.     

Infantile Alexander's disease. A case report

The infantile Alexander disease is a leukodystrophy that appears in the early childhood, characterized by megaloencephaly, demyelination and presence of numerous Rosenthal fibers in the brain. This is an illustrative case in the study of patients with megaloencephaly and seizures, emphasizing the differential diagnosis. Our patient is a male infant aged 15 months with megaloencephaly, seizures, changes of behavior and delayed psychomotor development, with corroborated leukodystrophy demyelination in the brain, scanned by computed tomography (CT) and magnetic resonance (MR) imaging. It is a sporadic clinical case of infantile Alexander disease, without a known family history of the disorder. The final diagnosis has been confirmed by the magnetic resonance findings.     

Infantile Refsum disease: serial evaluation with MRI

Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of phytanic acid in the blood and tissues, including the brain. A variant of this condition that occurs in young children is called infantile Refsum disease. The MRI findings of symmetrical signal change involving the corticospinal tracts, cerebellar dentate nuclei, and corpus callosum are characteristic. We report the serial MRI findings of a child with this rare metabolic disorder.     

Infantile Refsum disease: an inherited peroxisomal disorder

Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.Abbreviations IRD infantile Refsum disease - ZS Zellweger syndrome - NALD neonatal adrenoleukodystrophy - ERG electroretinogram - VEP visual evoked potentials - BAEP brainstem auditory evoked potentials - SSEP somatosensory evoked potentials - ACTH adrenocorticotropin hormone - VLCFA very long chain fatty acids - THCA trihydroxycoprostanoic acid - DHCA dihydroxycoprostanoic acid - DHAP-AT acyl-CoA: dihydroxyacetone phosphate acyltransferase     

Infantile multisystem inflammatory disease: A specific syndrome?

We report two patients with infantile onset of evanescent rash, fever, arthropathy with severe deformities, periosteal changes, chronic meningitis, hydrocephalus, convulsions, developmental delay, papilledema, unusual uveitis, and lymphadenopathy. A few patients with similar findings have been previously reported. Although some similarity exists between findings in these patients and in others with systemic juvenile rheumatoid arthritis, they appear to differ both in regard to the nature and severity of the clinical and pathologic features. We suggest that this group of patients has a separate rheumatic disorder not yet included in the standard classifications of the childhood rheumatic diseases.     

婴儿型Sandhoff 病1 例报告并文献复习

目的探讨婴儿型Sandhoff病的临床表现、诊断及治疗。方法回顾分析1例婴儿型Sandhoff病患儿的临床资料,并复习相关文献。结果 1岁2个月女性患儿,有神经运动发育倒退、顽固性抽搐;父母为近亲婚配;眼底镜检查见眼底红斑;头颅磁共振成像示左侧脑桥可见一小点状长T 2等T1异常信号影,脑白质水肿、弥漫性脱髓鞘改变;染色体核型未见异常;染色体微阵列提示多条染色体发生大片段纯合子;二代基因测序提示HEXB基因外显子11存在c.1263_1268del TGAAGT:P.(Glu422_Val423del)缺失突变及内含子13存在c.1614_2AG:P?剪切突变,父母各携其一。白细胞Hex A、Hex AHex B酶活性分别为84、112 nmol/(mg·h);确诊为婴儿型Sandhoff病。治疗采用丙戊酸钠、左乙拉西坦联合抗癫痫及糖皮质激素,患儿抽搐发作次数逐渐减少,反应较前好转;随访5个月,病情平稳无进展,无抽搐发作。患儿母亲再次妊娠,并于孕21+6周时行羊水穿刺检查,结果提示胎儿与患儿存在相同的突变。结论 Sandhoff病是一种罕见的遗传性溶酶体病,主要表现为进行性神经功能损害,目前缺乏有效的治疗方法,基因检测有助确诊及产前诊断。     

Infantile Hirschsprung's disease — is a barium enema useful?

This study examined the usefulness of barium enema examination in the diagnosis and evaluation of extent of aganglionosis in the 1st year of life. Twenty-four cases of Hirschsprung's disease in children less than 1 year of age were diagnosed from 1981 to 1989; 17 infants had a barium enema performed. A correct diagnosis was made by barium enema in 13 of the 17 infants, with the level of transition being correctly identified in only 8. Operative assessment of the cone was accurate in 14 of 24 infants, indicating that operative biopsy is always required. Therefore, the barium enema had a 24% false-negative rate in the diagnosis of Hirschsprung's disease and a 53% error rate in determining the level of transition. In the investigation of an infant with a low bowel obstruction, the initial procedure suggested is a rectal washout. If this results in relief of the obstruction, it should be followed by a rectal biopsy. A barium enema adds insignificant information. Offprint requests to: D. CassPaper presented at the Australian Association of Paediatric Surgeons Annual meeting, October 1989     

Infantile multisystem inflammatory disease: another case of a new syndrome

A 4-year-old girl with neonatal onset of chronic diffuse urticarial rash, head enlargement, protruding eye balls, bilateral arthritis of the knees, growth and mental retardation, and signs in blood and cerebrospinal fluid of chronic inflammation is presented and compared to two similar cases reported by us previously. Including this new patient there are now 14 documented cases with this specific inflammatory syndrome whose aetiology remains unknown.In the present case, however, elevated antibody titres against I. ric. Borrelia antigen were found in the serum.     

Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.