Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II).

The Richner-Hanhart syndrome seen in a middle-aged woman is described. The patient had the typical clinical manifestations of tyrosinemia II with a bilateral keratopathy, palmar and plantar hyperkeratosis. The patient was subjected to a specific diet and to perforating keratoplasty. Postoperative systemic therapy with steroids had a negative influence on the clinical manifestations; dendritic lesions which developed on the corneal graft disappeared after interruption of the systemic steroid therapy. This suggests that cortisone treatment after keratoplasty should be avoided in this special metabolic disorder.

Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in blood and urine, which can be used for diagnosis. Without recognition of this condition, the chances for life-saving steroid treatment and for genetic counselling are missed. We report clinical, endocrinological, biochemical, and morphological findings in two non-related boys. One of them died in early infancy. The other is thriving at the age of 2 years although he is suffering from a myopathy not distinguishable from Duchenne muscular dystrophy. We discuss when to suspect and how to confirm the diagnosis of infantile GKD, and under what precautions the condition is detectable by commonly used screening procedures for inborn errors of metabolism.

[Distribution pattern of the cellular oral immune system in the major and minor salivary glands. Immunocytochemical findings]. / Das Verteilungsmuster des zellulären oralen Immunsystems in den grossen und kleinen Mundspeicheldrüsen. Immunzytochemische Befunde.

The cellular distribution of lymphocytes and immunocytes in the major and minor salivary glands was analysed comparatively by a semiquantitative method on mastoids from 53 random autopsies. In a second step, the immunoglobulin producing immunocytes were cytochemically distinguished by their content of IgA, IgG and IgM. In addition to the major salivary glands (parotid, sublingual and submandibular), seven minor salivary gland regions (palate, floor of the mouth, upper lip, lower lip, cheek, retrolingual region and tip of the tongue) were studied. The immunocytochemical differentiation was performed by the avidin-biotin-system; the findings were evaluated morphometrically. The following results were obtained: The incidence of a marked or massive infiltration with lymphocytes and immunocytes, especially in the periductal area, showed the following distribution: floor of the mouth 36%, sublingual gland 27%, cheek 26%, palate 25%, lower lip 12%, other salivary glands less than 10% (tip of the tongue 9%, submandibular gland 8%, parotid gland 6%, retrolingual region 4%). 90% of the immunocytes contained IgA, whereas only 10% showed IgG or IgM. The highest density of IgA producing immunocytes was found in the upper lip, followed by the glands in the cheek and lower lip, the submandibular gland and the glands in the floor of the mouth. The lowest infiltration rate with IgA containing immunocytes was seen in the glands of the tip of the tongue, of the cheek and in the submandibular and parotid glands. The glands of the lips and the cheek predominated with respect to IgG and IgM.(ABSTRACT TRUNCATED AT 250 WORDS)