Hermann Pfeiffer

Ohne Zusammenfassung     

A case of Pfeiffer syndrome

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.     

Richard Pfeiffer Zum siebzigsten Geburtstag

Ohne Zusammenfassung     

Specific serum IgA in rotavirus gastroenteritis

Virus-specific serum IgM, IgA, and IgG were detected by ELISA in sera obtained from children with rotavirus gastroenteritis and fractionated by gel filtration. Specific IgM and IgG could be easily demonstrated, whereas IgA were very low. Moreover, polymeric IgA (p-IgA) were not present, whereas in the immune response against viruses causing systemic infections, they are synthetised in large amounts.     

Mild expression of the Pfeiffer syndrome

The acrocephalosyndactylies are a group of conditions with a wide variability of expression. We report a patient with features of the Pfeiffer syndrome (acrocephalosyndactyly type V), initially believed to be a new mutation in her family. Further examination of her mother demonstrated abnormalities of her right thumb which we believe may represent mild expression of the Pfeiffer syndrome. This observation illustrates the variability of phenotypic expression in the Pfeiffer syndrome and underscores the importance of careful investigation of parents and other family members when evaluating individuals with this condition.     

Variable expression in Pfeiffer syndrome.

A female infant with Pfeiffer syndrome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but has craniofacial features with strongly suggest that she is also affected, although more mildly. This family indicates that wide intrafamilial variation of Pfeiffer syndrome is possible and suggests that without detailed investigation mildly affected subjects can remain undiagnosed, which may lead to erroneous genetic counselling.     

Congenital tracheal stenosis in Pfeiffer syndrome

We report an infant with Pfeiffer syndrome (acrocephalosyndactyly type V) and a solid cartilaginous trachea lacking rings. This airway abnormality has been reported in a child with Crouzon syndrome but has not been described in Pfeiffer syndrome.     

Cerebrospinal fluid and serum immunoglobulins and antibody titers in mumps meningitis and aseptic meningitis of other etiology.

Cerebrospinal fluid (CSF) and serum from 19 patients with mumps meningitis and 19 patients with meningitis of other etiology were investigated on two or more occasions for at least 1 month after onset. Intrathecal synthesis of immunoglobulin (Ig) G was found in 55%, of IgA in 26%, and of IgM in 24% of the patients. Oligoclonal Ig was demonstrable by agarose gel electrophoresis in 37% of the patients, mostly already during the first week after onset, and could persist for years. Mumps virus antibody synthesis within the central nervous system occurred in 37% of the mumps meningitis patients. The inflammatory reaction within the central nervous system as reflected by mononuclear pleocytosis, Ig synthesis, and oligoclonal Ig was not correlated to the clinical course. The blood-brain barrier was evaluated by determination of the CSF total protein, CSF/serum albumin ratio, and CSF/serum alpha2-macroglobulin ratio. A significant correlation was found among these three parameters. Persistence of the elevated CSF/serum albumin ratio seems to influence prognosis, and this parameter is recommended for evaluation of the blood-brain barrier function.     

Type 3 Pfeiffer syndrome with normal thumbs

We report on a male infant with extremely shallow orbits, spontaneous luxation of the eyes out of the eyelids, hypoplastic midface, broad, medially rotated great toes, and respiratory distress due to severe bilateral posterior choanal stenosis. At 4 days he had open cranial sutures (both by palpation and radiological examination). Subsequent radiologic studies demonstrated: thickening of the skull base, vertebral anomalies, flattening of the olecranon fossae with dislocated radii, and triangular shape of the proximal phalanx of the first toes. Our patient had manifestations of type 3 Pfeiffer syndrome (PS). However, the finding of normal thumbs has not been reported in type 3 PS. Point mutations in fibroblast growth factor receptor-1 (FGFR1) and fibroblast growth factor receptor-2 (FGFR2) have been reported in familial and sporadic cases of PS, but were not found in this patient. Recognizing type 3 PS, despite variability in expression, is important for genetic counseling, prognosis, and decision-making regarding craniofacial surgery © 1996 Wiley-Liss, Inc.     

Specific serum binding of morphine, levorphanol and heroin

Effects of repeated subcutaneous pellet implantation of a series of narcotic drugs on the serum binding of [¹⁴C]morphine was studied in rabbits. Three of the compounds, morphine, heroin and levorphanol, elicited production of a morphine-binding globulin in the implanted rabbits. This serum response did not occur with several other compounds tested, including the potent analgesic methadone, and the narcotic antagonist naloxone. The time course of production of this globulin response, as well as the specificity of the binding for the drug that induced the response are both characteristic of an immunological reaction.