Uta Burck

Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis

Ultrastructural examination of peripheral lymphocytes was performed in 28 cases of various lysosomal diseases, including infantile, late infantile and juvenile neuronal ceroid-lipofuscinoses (NCL), mucopolysaccharidoses (MPS), juvenile and adult metachromatic leukodystrophies (MLD), GM1-gangliosidosis, one patient with presumed mucolipidosis type IV, mucolipidosis type III, and glycogenosis type II. Based on our own observations on the ultrastructure of lymphocytes in lysosomal disorders, our results may be divided into the following 3 groups: 1. pathological findings with specific inclusions: each type of NCL, presumed mucolipidosis type IV, glycogenosis type II; 2. pathological findings with vacuoles: types I-H, II, III-A and III-B, IV, VI-A and VI-B of MPS, GM1-gangliosidosis; 3. apparently no pathological findings: juvenile and adult MLD, mucolipidosis type III, GM2-gangliosidosis, Gaucher disease. These results led us to conclude that morphological investigations utilizing lymphocytes do not always offer sufficient diagnostic information although easy accessibility favors diagnostic ultrastructural studies of lymphocytes. Such morphological studies should be supplemented by diagnostic biochemical methods.

A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects.

A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions.Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the discase: a severe type, an intermediate type and a relatively mild type. The activity of acid ceramidase does not correlate with prognosis of the disease, while a correlation between first appearance of dermal nodules and clinical course appears likely.

Mesomelic dysplasia with punctate epiphyseal calcifications—a new entity of chondrodysplasia punctata?

Two unrelated girls presented the identical clinical and radiological findings of shortened middle limb segments, slight punctate epiphyseal calcification, relatively short distal ulnae and long proximal fibulae, dislocation of the radial heads and patellae, and a characteristic face. There were no cataracts or skin changes. Whether these findings represent a new entity of chondrodysplasia punctata or an unusual type of mesomelic dysplasia with punctate epiphyseal calcifications seems to be a matter of semantics. Differential diagnostic features regarding the different forms of mesomelic dysplasia and punctate epiphyseal calcifications are discussed.

Unilateral skin lesions associated with multiple neoplasms

A girl with unilateral partly depigmented, partly hyperpigmented atrophic skin lesions, hypertrichosis, postauricular nodules, cataracts, and mild mental retardation is presented. Additionally, she developed multiple neoplasms as optic glaucoma, a psammomatous meningioma and an ameloblastoma. It remains unclear whether our patient suffers from a variant of the epidermal nevus syndrome or a new neuro-ectodermal dysplasia.

Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia: Clinical and radiological differential diagnostic features

A girl with a “new” variant of mesomelic dysplasia is reported. The disorder is characterized by mesomelic brachymely, especially of the arms, a short ulna, relatively long fibula, brachymetacarpy, minor symmetrical changes at the hands, developmental arrest of the spine, contractures, and micrognathia. The clinical and radiological differential diagnostic features are discussed.

Unilateral Skin Lesions, Cataracts, Optic Glioma and Retardation – a Variant of the Epidermal Nevus Syndrome?

A girl with unilateral partly depigmented partly hyperpigmented atrophic skin lesions, cataracts, optic glioma, and mental retardation is presented. Differential-diagnostic aspects are discussed. It remains to be seen whether this case represents a variant of the epidermal nevus syndrome, an unusual type of X-linked dominant chondrodysplasia punctata or a separate nosological entity.

CAT scan findings in clinically healthy relatives of tuberous sclerosis patients

Tuberous sclerosis follows an autosomal dominant trait with variable expression. To establish such an autosomal dominant hereditary pattern in a family who has only one member overtly affected, i.e. to detect familial formes frustes, is therefore of utmost importance for genetic counselling, as the following brief communication illustrates. advice about the risk in future pregnancies. Seizures are not known in the family and the patient had two healthy siblings. The mother suffers from migraine. She had mild skin changes similar to adenoma sebaceum in her nasolabial region which prompted computer tomography. The CAT scan revealed minute periventricular calcified spots, typical of tuberous sclerosis. These