An inverted ratio for T-helper/T-suppressor cells,and selective deficiency of cell-mediated immunity,in a girl with cartilage hair hypoplasia

Clinical and immunological data are presented in a thirteen-year-old girl with cartilage-hair hypoplasia. From early infancy, the girl suffered from recurrent respiratory infections, and at ten years of age she had a severe and protracted attack of varicella. Immunologic investigations revealed very low mitogenic responses to PHA and ConA and an inverted ratio for T-helper/T-suppressor cells. However, antibody-mediated immunity was normal. The results emphasize that selective cell-mediated immune dysfunction, which is most often found in short-limbed dwarfism with cartilage-hair hypoplasia, may be due to increased T-suppressor- as well as decreased T-helper cell activity.Corresponding author     

Fatal encephalitis/encephalopathy in primary human herpesvirus-6 infection.

An encephalitic illness with a fatal outcome occurred in a 9 month old girl with virologically confirmed exanthem subitum. Human herpes-virus-6 (HHV-6) DNA was found in the cerebrospinal fluid at the acute stage of the disease by the polymerase chain reaction, but the virus antigen was not detected in her brain tissue. This suggests that HHV-6-induced encephalitis/encephalopathy may be due to a non-infectious process.     

Multicentric/massive idiopathic osteolysis in a 17-year-old girl

An unusual case of multicentric/multifocal osteolysis with unique clinical and radiographic features in a 17-year-old girl is reported. The brother of the patient who was probably also affected could not be examined.     

Clinical and immunohistochemical findings in a case of neonatal Marfan syndrome

A newborn girl with extreme cardiomegaly discovered by fetal ultrasound after 34 gestational weeks is presented. The girl was delivered through a Caesarean section. After birth, multiple skeletal stigmata and generalized cardiac involvement with abnormal valves and dilated great arteries suggested Marfan syndrome. The girl died at the age of 10 h. The postmortem examinations showed cardiovascular lesions typical of Marfan syndrome. Immunofluorescence studies from cultured fibroblasts of the patient showed decreased amounts of immunostained fibrous material, supporting the clinical diagnosis of a severe Marfan syndrome.     

Renal Cell Carcinoma with t(X;17): Singular Pediatric Neoplasm with Specific Phenotype/Genotype Features

Renal cell carcinomas in children are extremely rare and are usually associated with specific chromosomal rearrangements, different from those seen in adult patients. We present the case of a 9-year-old girl with a renal cell carcinoma with t(X;17) diagnosed at our institution. We also review the pertinent literature, with an emphasis on the genetic and molecular aspects associated with this rare neoplasm.     

Follow-up of perinatal HIV infection

The clinical course of a perinatal HIV infection in a 3 1/2-year-old girl is presented. The girl became HIV-positive at the age of 6 months, at about the same time as her mother. She is receiving continuous prophylactic treatment with immunoglobulins and cotrimoxazol. The pathological findings and the stage according to the classification of the Centers for Disease Control are discussed.     

Congenital hereditary lymphedema (Nonne/Milroy)

A 36-year-old man, with his children, a three-year-old girl, and a five month-old boy, suffering from congenital hereditary lymphedema, were the subjects of the present study. The man and his wife, were distant relatives. All the other family members of the two sides were apparently healthy.     

Gillespie syndrome: 2 familial cases]

We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.     

Down syndrome with XO/XX mosaicism.

A 2-month-old girl with Down syndrome was found to have 47, XX, +21/46, X, +21 mosaicism. No symptoms indicative of infantile Turner syndrome were observed.     

Vesicoureteric reflux deterioration in monozygotic twins

Primary vesicoureteric reflux (VUR) is the most common inherited structural urinary tract disorder, conforming closely to autosomal dominant transmission. A pair of monozygotic siblings is described exhibiting a remarkably parallel clinical course. VUR grade II was diagnosed in girl A during urinary tract infection at the age of 2 yr; screening of her asymptomatic sister (girl B) revealed the same. Renal cortical scintigraphy unveiled unilateral hypo-dysplasia in both the twins. Despite trimethoprime—sulfamethoxazole prophylaxis, infection recurred in girl A after 7 months, while girl B had a first episode 2 months later that prompted regimen switch to nitrofurantoin. Follow-up at the age of 4 depicted bilateral reflux deterioration; an urodynamics study that followed revealed functional bladder instability in both girls and the oral antispasmodic oxybutynin was initiated with good results. Evaluation for reflux should be prompt in infants with urinary infection. Patient siblings display a higher relative reflux risk, being highest in identical twins. Heredity issues, the impact of age and dysfunctional voiding in the clinical course, and the contribution of nuclear medicine in VUR management are discussed.     

Understanding Korina. How can psychoanalytic observation support the role of a class teacher teaching special needs children in a mainstream school?

Abstract

This paper looks at material drawn from my daily teaching of a young girl with Down's syndrome in a mainstream classroom. It demonstrates how psychoanalytic observation of our interactions and her interactions with others allowed me to reflect on the play and behaviour she displayed over the year, helping me to understand her unconscious communications. Instead of seeing a ‘naughty’ girl unable to behave appropriately or a ‘happy’ girl always smiling, I recognised a child struggling to deal with her learning disability. My awareness of her feelings and sensitivity towards her needs not only facilitated her learning and development but also my role as class teacher.     

Uptake of 99mTc Pertechnetate in a partial volvulus of the proximal jejunal loop

High uptake of Technetium-99m Pertechnetate (^99mTcO₄) in situations unrelated to the presence of acid-secreting gastric cells has attracted recent attention. A 10 year old white girl, investigated for the possible presence of a Meckel's diverticulum, was found to have a partial volvulus of the proximal jejunal loop that exhibited intense localization of Technetium-99rn Pertechnetate.     

11岁女孩反复全身散在皮疹10年

女性患儿,11岁,因反复全身及黏膜部位皮疹10年入院,典型皮疹为口周、手足关节、外阴、肛周处红斑,红斑上可见水疱、糜烂、溃疡,补锌治疗后好转,其弟弟有类似的皮疹及病史。皮肤组织病理学检查可见表皮角化不全伴轻度角化过度,角质层重度海绵状水肿,棘细胞明显增生,角质形成细胞空泡化。基因检测提示患儿及其弟弟SLC39A4基因均存在c.1456(exon9)delG致病性纯合突变,诊断为肠病性肢端皮炎。对于反复出现四肢及腔口周围皮疹,且治疗反复的患儿,应尽早完善基因检测以明确诊断,同时予以足剂量的补锌治疗,定期检测血清锌等微量元素的水平。 ［中国当代儿科杂志,2022,24（9）：1047-1052］     

Lymphoblastic leukaemia and Kaposi's sarcoma

The authors report the case of a young white girl in whom the diagnosis of lymphoblastic leukaemia was made at the age of 5 years. Chemotherapy induced remission and long term surveillance began. Seven years after the onset of the first disease this girl died of an undiagnosed illness characterised by multiple nodules in both lungs. The autopsy gave the diagnosis of Kaposi's sarcoma.Presented at the 14^th. Meeting of the European Society of Pediatric Radiology, Luzern 1977     

Unbalanced translocation 8/X in a girl

A girl with mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties and recurrent infections is described, who has been observed from the age of 7 months to 3 2/12 years. Chromosomal analysis revealed an unbalanced X-autosomal translocation between the greater parts of the long arm of an X-chromosome and the long arm of an chromosome 8 resulting in a partial trisomy 8q and partial monosomy Xq.     

Atypical teratoid/rhabdoid tumor mimicking tuberculous meningitis

Atypical teratoid/rhabdoid tumor of the central nervous system is a highly malignant neoplasm in infants and young children. We report a 6 year-old girl with atypical teratoid/rhabdoid tumor. Based on cerebrospinal fluid examination MRI scan and family history of tuberculosis; we diagnosed tuberculous meningitis. There was inadequate response to the antituberculosis therapy; so we performed stereotactic brain biopsy. Pathologic result revealed high grade atypical teratoid/rhabdoid tumor.     

Torsion of the ovary in children: value of echography and difficulties of anatomical interpretation

Two cases with the clinical presentation of peritonitis and a 9 year-old girl with ovarian torsion are reported: a 2 year-old girl with paroxistic abdominal pain and occlusive syndrome. Ultrasonography was of main interest in that situation. The necrotized ovary was extracted at intervention in both cases; histological data did not allow to distinguish the torsion on an hemangiomatous ovary from the torsion of an healthy ovary, which represents an exceptional feature.     

Hartnup syndrome,progressive encephalopathy and allo-albuminaemia

Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.     

Facial paralysis in a 2 1/2-year-old girl due to herpes zoster oticus. Results of the reactivation of a chickenpox infection in infancy

A case of herpes zoster oticus in a 2 1/2 year-old girl with a history of varicella at the age of 4 months is reported. Peripheral facial palsy was the prominent clinical symptom. Following treatment with Acyclovir 15 mg/kg/day i.v. for 7 days a complete remission was noted. Course, treatment and prognosis of zoster oticus are discussed, as well as the increased incidence of herpes zoster in children who had varicella before the age of 1 year.     

Starke allergische Hautreaktion nach der Poliomyelitis-Schluckimpfung (Typ I/II/III)

Zusammenfassung Bei einem 7 Jahre alten Mädchen wird eine starke allergische Hautreaktion 1 Tag nach der zweiten Poliomyelitisschluckimpfung mit einem maculösen und bullösen Exanthem geschildert, das vor allem im Gesicht, an den Händen und den Fußrücken lokalisiert war. Das Kind hatte anfangs erhöhte Temperatur, wurde während der folgenden Tage vielleicht durch die Behandlung fieberfrei. Es bestand außerdem eine Thrombopenie. Unter Cortison- und Antibioticatherapie klang das Exanthem rasch ab, die Bläschen, platzten oder trockneten ein. Das Mädchen konnte geheilt nach 8 Tagen stationären Aufenthaltes entlassen werden. Ähnliche Hautreaktionen, die in der Literatur angegeben sind, werden geschildert.

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Summary A strong allergic cutaneous eruption in a 7 years old girl after vaccination with Sabinvaccine (Typ I/II/III) is described. A vesicular and macular exanthema was seen, specially on the face, hands and the upperside of the feet. At first the child had fever, on the following day it was free from fever and in a good condition. The exanthema faded away after treatment with corticoids and antibiotics; the girl was cured and could be discharged from hospital 8 days later.