Acrodysostosis A case of peripheral dysostosis,nasal hypoplasia,mental retardation and impaired hearing

Acrodysostosis — a rare congenital malformation syndrome — is described in a 41/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH) — and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.     

Congenital microcephaly,infantile spasms,psychomotor retardation,and nephrotic syndrome in two sibs

Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome. The autopsy findings of one patient are described in detail. Polymicrogyria was the most prominent feature and the kidneys showed focal segmental glomerulosclerosis. These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset nephrotic syndrome and mental retardation, accompanied by various other clinical symptoms. A review of the literature suggests an autosomal recessive mode of inheritance.     

Rare combination of double bladder,double urethra,dextrocardia, situs inversus,and anomalies of the genital and skeletal systems

A rare case of mirror-image dextrocardia with inverse visceroatrial relationship associated with a double symphysis pubis and splitting of the lumbosacral spine and duplication of the bladder and urethra is reported. The clinical findings and investigations are described. An embryological explanation is also suggested.     

Clinical,morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis

A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroidlipofuscinosis is briefly discussed.With support of the Landesamt für Forschung des Landes Nordrhein-Westfalen     

Fetal rhabdomyoma of the parotid gland in an infant: histological, immunohistochemical, and ultrastructural features

A case of fetal rhabdomyoma of the parotid gland in a 3-year-old infant is presented. The histological, ultrastructural, and immunohistochemical findings in this very uncommon benign tumor are described together with a review of the literature.     

Fetal Rhabdomyoma of the Parotid Gland in An Infant: Histological, Immunohistochemical, and Ultrastructural Features

A case of fetal rhabdomyoma of the parotid gland in a 3-year-old infant is presented. The histological, ullraslrucliiral, and immunohistochemical findings in this very uncommon benign tumor are described together with a review of the literature.     

Spondylometaphyseal dysplasia,type VII

Spondylometaphyseal dysplasia was first described by Kozlowski et al. in 1967 as a new dysplastic bone disease, characterized by metaphyseal dysplasia associated with generalized platyspondyly in the vertebral column [1]. Kozlowski et al. have pointed out the autosomal dominant transmission of this disorder at that time. However, later reports showed that the manner of genetic transmission and the degree of the manifestation of the radiological findings could be variable and accordingly seven types of spondylometaphyseal dysplasia were described [2]. In this article, three cases displaying one of the rare forms of spondylometaphyseal dysplasia, type VII are presented and the diagnostic findings as well as the differential diagnostic criteria are discussed.     

HIGH VOLTAGE QRS COMPLEXES IN CHILDREN WITH INNOCENT, "VIBRATORY" HEART MURMUR

Abstract. Michaélsson, M. and Tuvemo, T. (Department of Paediatrics, University Hospital, Uppsala, Sweden). High voltage QRS complexes in children with innocent, "vibratory" heart murmur. Acta Paediatr Stand, 64:119, 1975.–The electrocardiographic findings in 86 four-year-old children with innocent murmur of the so-called vibratory type are described. The electrical axis, the Q, R and S waves in the right and left precordial leads were compared with figures from the literature and with a control group of 4-year-old children without signs of somatic disease. The most significant findings were higher amplitudes of Q and R waves over the left precordium in children with vibratory murmur. Many children in this group had amplitudes of these waves exceeding accepted normal limits. There were no findings compatible with organic heart disease and the difference as compared to normal values and controls is probably a matter of variations in the position of the heart.     

Ringchromosom Nr. 18 und fehlendes Ig A bei einem 6jährigen Mädchen (46,XX,18r)

Zusammenfassung Es wird ein 6jähriges Mädchen mit angeborenen Fehlbildungen, geistiger Retardierung und Fehlen von Immunglobulin A beschrieben, das die Chromosomenaberration 46,XX,18r aufweist.Die klinischen Merkmale der in der Literatur ermittelten 22 Patienten mit Ringchromosom 18 werden mit Merkmalen von Patienten verglichen, die Defizienzen am langen oder kurzen Arm des Chromosoms Nr. 18 zeigen.

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Ring-chromosome 18 and Ig A deficiency in a 6 year old girl

A 6 year old girl with mental retardation, congenital malformations, deficiency of Ig A and the chromosomal aberration 46,XX,18r is described. The clinical findings of patients with structural aberrations of chromosome 18 described in the literature are reported.

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft AZ Mu 258/3     

Radiological findings in the diagnosis of genitourinary candidiasis

The presence of fungus balls within the collecting system is an important clue to the radiological diagnosis of genitourinary candidiasis. In this report, an 8-month-old infant with this opportunistic infection is described. Emphasis is placed on the radiological findings of renal candidiasis, including previously unreported MR appearances. Sonographic and Doppler findings of accompanying Candida epididymitis are also described. Received: 12 August 1999/Accepted: 27 March 2000     

Light Microscopic, Immunohistochemical, and Ultrastructural Findings in Congenital Fibular Aplasia or Hypoplasia (FAH)

Congenital aplasia or hypoplasia of the fibula (FAH) is a rare malformation that is defined by a partial or complete absence of the fibular bone. Etiology and pathogenesis are unknown and the precise morphology of the tissue cord replacing the malformed fibula has not been well described. Therefore, tissue cord was examined in 8 patients with FAH. Light microscopic, immunohistochemical, and electron microscopic investigations showed a core of embryonic cartilage with collagen II and VI expressions surrounded by connective tissue. Although collagen II expression is typical for chondroid differentiation, collagen VI reactivity is normally seen in articular cartilage and tendon-like fibrocartilaginous tissue but is absent in hyaline cartilage. Further ultrastructural analyses by electron microscopy supported these findings. The histomorphologic changes correspond to the histologic findings of Papenbrock et al. (2000, Mech Dev 92:113–123) who produced a congenital malformation in transgenic mice that resembled FAH by overexpression of Hox c11. This report is the doctoral thesis of Anne Stemper.     

Cystic retroperitoneal lymphangioma: CT,ultrasound and MR findings

A case of cystic retroperitoneal lymphangioma complicated by hemorrhage is reported in a 7-year-old boy who presented with an abdominal mass. The mass which was partially obstructing the ureter was successfully resected. The imaging findings with emphasis on MR features are described.     

Neurological,Electroencephalographic, and Virological Findings in Febrile Children

Investigations were made of 78 febrile children, 53 with fits and 25 without fits. 53% of the children with fits had viral illnesses. Severe fits were commoner in these children than in those with negative viral findings. Permanent neurological damage and prolonged EEG abnormalities were found significantly more often in children with, than in those without, viral disease, whether or not fits had occurred. The long-term implications are discussed. In addition to viral agents already described as causing neurological complications, the following organisms were found in association with central nervous system disorder: adenovirus 7, respiratory syncytial virus, parainfluenza 2, and C. burnetii (Q fever).     

Schneckenbecken dysplasia, radiology, and histology

To our knowledge this is the first report of Schneckenbecken dysplasia with the development of hydrops early in the second trimester. The radiological findings showed the typical hypoplastic iliac bones with medial extension and very flattened, on lateral view, oval-shaped vertebral bodies and short long bones. The histology showed hypercellular and hypervascular cartilage with chondrocytes with centrally located nucleus. The absence of the lacunar space as described before was also observed in some chondrocytes in our case. This male fetus was the product of consanguineous parents of Mediterranean origin compatible with autosomal recessive inheritance. Received: 7 June 2000 Accepted: 3 August 2000     

Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients

The early manifestations of hereditary fructose intolerance are described in a series of 55 patients. Management of this metabolic disorder depends on the severity of liver impairment. When the patients are given a fructose-free diet, the improvement is a dramatic but liver enlargement and fatty vacuolization of liver cells often persist. These hepatic findings were also observed in the five homozygous infants who were given a fructose-free diet from birth; this outcome may support the hypothesis that minimal amounts of fructose are esential for human beings.     

45,X/46,XY mosaicism

The clinical findings in ten patients with 45,X/46,XY mosaicism are described. Three girls presented with short stature, delayed sexual development or Turner-like stigmata without signs of virilization. Bilaterally gonadoblastomas were found in two girls, and the gonads in one of these girls also contained mucinous cystadenomas. The remaining seven patients were raised as boys. Three had scrotal hypospadias and mixed gonadal dysgenesis. Three presented as male pseudohermaphrodites with scrotal or penoscrotal hypospadias and bilateral testes. One male was diagnosed in adulthood because of gynecomastia, but had normal male external genitals. The clinical findings illustrate the wide spectrum of phenotypic manifestations of 45,X/46,XY mosaicism, ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, male pseudohermaphroditism to almost phenotypic normal males.     

The association between Turner's syndrome and juvenile rheumatoid arthritis

Background. Turner's syndrome (TS) is a chromosomal disease frequently associated with autoimmune conditions including thyroid disease, inflammatory bowel disease, and diabetes. Recent reports have described an association with juvenile rheumatoid arthritis (JRA) and psoriatic arthritis. We describe three additional cases of TS associated with JRA. Objective. The objective of this report is to describe the radiographic and clinical features of TS associated with JRA to heighten awareness of this association and alert radiologists to recognize the superimposition of radiographic bony changes of chronic joint disease and the bone changes of TS. Patients and methods. Clinical history and radiographic images of three girls with TS and arthritis were reviewed. The radiographic findings typical of TS and juvenile arthritis are described. Results. Of about 65 patients at our center with Turner's syndrome 3 had JRA (as described in this report), supporting the association between TS and JRA. All our patients who met American College of Rheumatology Classification criteria for JRA had radiographic and clinical findings consistent with both their JRA and Turner's syndrome. Conclusion. We believe that it is important to consider the diagnosis of Turner's syndrome in girls with JRA, recognizing that characteristic radiographic findings such as metacarpal shortening are usually present. Conversely, suspicion of an underlying inflammatory arthritis is warranted in search for radiological findings consistent with JRA in girls with TS and joint symptoms. Received: 10 November 1998 Accepted: 31 March 1999     

High voltage QRS complexes in children with innocent, "vibratory" heart murmur.

The electrocardiographic findings in 86 four-year-old children with innocent murmur of the so-called vibratory type are described. The electrical axis, the Q, R and S waves in the right and left precordial leads were compared with figures from the literature and with a control group of 4-year-old children without signs of somatic disease. The most significant findings were higher amplitudes of Q and R waves over the left precordium in children with vibratory murmur. Many children in this group had amplitudes of these waves exceeding accepted normal limits. There were no findings compatible with organic heart disease and the difference as compared to normal values and controls is probably a matter of variations in the position of the heart.     

Unusual pathologic findings in a girl with Wolf-Hirschhorn syndrome, del (4p)

A newborn girl with Wolf-Hirschhorn syndrome and 46, XX, del (4) (p15) de novo karyotype is described. Unusual pathologic and histologic findings were observed at autopsy in the cardiovascular, respiratory, alimentary, and urogenital systems. Of over 100 cases reported in the literature, only 18 include pathologic findings.     

Unusual Pathologic Findings in A Girl with Wolf-Hirschhorn Syndrome, Del (4p)

A newborn girl with Wolf-Hirschhorn syndrome and 46, XX, del (4) (p15) de novo karyotype is described. Unusual pathologic and histologic findings were observed at autopsy in the cardiovascular, respiratory, alimentary, and urogenital systems. Of over 100 cases reported in the literature, only 18 include pathologic findings.