H. R. Wiedemann

An unidentified neonatal progeroid syndrome: follow-up report.

Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.

Dysplasia epiphysealis hemimelica—Trevor disease. Severe manifestations in a child

This report describes a case of “dysplasia epiphysealis hemimelica” with the first clinical manifestations at birth and increasing difference in the length of the lower extremities during infancy. The diagnosis was made at the age of 3 years when marked disability had already occurred. There was involvement of both legs and, to a lesser degree, the arms suggesting that this is a systemic disorder.

Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).

We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.

Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations.

Following genetic counselling of a consanguineous couple because of a daughter born with peripheral hypoplasia of the left arm, ultrasonographic examination during the second pregnancy revealed marked hydrocephalus of the fetus in the 17th week of pregnancy. Pathologic examination of the female fetus disclosed severe cerebral, cardiac, and skeletal malformations including holoprosencephaly, absent corpus callosum, microphthalmia, facial clefts, tetramelic octodactyly, and cardiac defects. These findings indicate a possible genetically determined syndrome that appears to be distinct in spite of some overlap with other malformation syndromes.

Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation

A case is described in which the family history and the sonographic findings during the 17th gestational week led to the suspicion of a short-rib-polydactylia syndrome of the Saldino-Noonan type and an abortion was induced. The ultrasound image disclosed cystic structures in the topographic area of the kidney, marked ascites and oligohydramnios and indicated a severe fetal developmental disturbance.Due to the oligohydramnios the extremities could not be interpreted sonographically. The pathological-anatomical findings confirmed the suspected short-rib-polydactylia syndrome of the Saldino-Noonan type. Typical skeletal changes, dysgenetic cystic kidneys and pancreatic fibrosis were especially indicative of the syndrome. The complete agenesia of the islets of Langerhans, present in our observation, has, as far as we know, previously not been reported in the case of short-rib-polydactylia syndromes.

Mesomelic dysplasia—Associated with other abnormalities

We report on a boy with mesomelic dysplasia. The mesomelic brachymelia, especially of the arms, was associated with delayed ossification of the skull, a peculiar face, a short neck with pterygia, symmetrical flexion deformities of the fingers, hypospadias, and other abnormalities. The authors are not able to classify the childs syndrome nosologically.

Lymph node excision as a simple diagnostic acid in rare lipidoses

Autopsy material from a case of Niemann-Pick disease was subjected to lipid analysis. Among the six tissues investigated, lymph nodes exhibited the greatest storage of several lipids. Since lymph nodes are relatively easy to obtain by biopsy, they may be utilized for chemical diagnosis of this type of lipidosis.

Congenital craniofacial dysostosis and cutis gyratum —what would Virchow have thought about it?!

Sir: Systemic lupus erythematosus (SLE) is a connective tissue disease whose specific cause or causes remain undetermined. However, drugs and other agents can produce a lupus-like syndrome, drug-related lupus [6]. We have cared for a 14-year-old girt with lupus-like syndrome caused by prolonged minocycline therapy for acne. A 14-year-old girl was admitted because of spiking fever for 8 days and arthralgia in the right elbow. Two months before admission, she had begun to receive minocycline 200 mg daily for facial acne. There was no history of hair loss or photosensitivity. Chest X-ray was normal. Laboratory data were as follows: Hb 11.6 g/dl, WBC 2900/mm 3, ESR 50 mm/h, serum GPT 284 IU/1 and CRP 0.9 mg/dl. IgG, A, M, C3, C4 and CH50 values were normal. Serum antinuclear antibody (ANA) was positive at 1 : 640 with a nucleolar pattern. Anti-DNA, anti-Sm, anti-histone antibodies and LE test were all negative. Administration of piperacillin was ineffective. On the 6th hospital day, her physician realized that she had no discontinued minocycline, and ordered that it be stopped. After the cessation of minocycline, she defervesced rapidly and the arthralgia disappeared. She was discharged from the hospital after 21 days. At home, she had a recurrence of fever and arthralgia when she took minocycline for 2 days. During follow-up for 8 months, the GTP level and ANA titre gradually normalized and the patient was asymptomatic without any special treatment. HLA study revealed that she had HLA-DR2, which is thought to be the common HLA antigen in Japanese and Caucasian patients with SLE [2]. Agents causing drug-related lupus have been classified into three groups: (1) those with definite proof of association, (2) those with possible association, and (3) those with unproved association. Tetracyclines fall into the third group [6]. The first possible case of drug-related lupus with minocycline was described by Matsuura et al. [5] in 1993. In this report, a 22-year-old Japanese woman showed lupus syndrome following administration of minocycline for 2 years for the treatment of acne [5]. The case of Matsuura and ours are very similar: both involved young woman with long histories of minocycline therapy for acne who possessed HLA-DR2, which is a marker for SLE. As ache therapy, tetracyclines are often administered for several months to a few years until the desired clinical improvement is evident. In addition to antimicrobial activity, tetracyclines have a number of anti-inflammatory actions such as inhibition of leucocyte chemotaxis [1] and enhancement of interleukin1 f3 release [31. Therefore, it is reasonable to assume that tetracyclines interact with host cell-mediated immune defenses, which may contribute to their efficacy in the treatment of inflammatory lesions, and that chronic exposure to tetracyclines could perturb the host immune system, resulting in autoimmune disorders. Furthermore, acne inflammation mainly involves T-cell mediated immunity [4], suggesting that acne may be a co-factor in the pathogenesis of minocycline-related lupus. We believe that the prolonged administration of minocycline to individuals who have a hereditary predisposition to develop SLE may induce lupus-like syndrome. We feel that physicians should be aware of this possibility, especially in the treatment of acne.

Sarcoidosis: Ten Years' Follow-Up of a Relatively Severe Case*

This report describes the course of sarcoidosis in a case with excessive lymphadenopathy in the cervical and facial regions over a period of more than ten years. The patient was followed by the pediatrician into adult life.