Elena Bianchi

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation

SummaryAicardis syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable X-linked dominant trait with male lethality. All features of this syndrome were seen in a girl with a de novo balanced X/3 translocation (46,X,t(X;3)(p22;q12)). It is hypothesized that the clinical picture is the consequence of chromosome breakage within the Aicardi locus. Then, unusual X-inactivation patterns in blood and fibroblasts of this patient can be explained by somatic selection against cells with the Aicardi phenotype.

HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome

SummaryThe immotile-cilia syndrome (ICS) is a congenital disorder characterized by dysmotility or even complete immotility of the cilia in the ciliated epithelia. The most frequent consequences include recurrent air-way infections from early childhood. Neonatal asphyxia often occurs. Males are usually sterile, whereas females may be fertile or infertile. The disease is inherited as an autosomal recessive trait, but previous attempts to localize the ICS susceptibility gene have so far been unsuccessful. Here, we present the case of two sib pairs affected by ICS from two unrelated families. The electron microscopic investigation of nasal biopsies showed structural anomalies of the cilia, characterized by single microtubules or doublets, arranged randomly in the axoneme. Histocompatibility antigen (HLA)-genotyping of all family members revealed: 1) a significant association of ICS with the HLA-DR7; DQW2 haplotype, which is shared by all the affected sibs (P = 0.0099; RR = 25.94); 2) a possible linkage of the ICS susceptibility gene with HLA, both the affected sibs being HLA-identical, the healthy brother in family B being HLA-different (sibpair analysis: P < 0.001).

Regional assignment of the loci for adenylate kinase to 9q32 and for α1-acid glycoprotein to 9q31-q32: a locus for Goltz syndrome in region 9q32-qter?

SummaryNormal levels of adenylate kinase (AK-1) and of α1-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked.

Mucolipidosis II: correlation between radiological features and histopathology of the bones

Twelve cases of Mucolipidosis II (I-cell disease) with a wide range of severity of skeletal involvement were studied. Pathological findings in two cases provided helpful information in understanding the radiographic features of dysostosis multiplex. Inhibition of the growth plate cartilage calcification and rickets-like lesions were observed in the metaphyses. Enhanced subperiosteal remodelling and paratrabecular fibrosis were also evident in the diaphyses. High levels of parathormone were found in one case. This finding supports the hypothesis that bone lesions may be secondary, at least in part, to damage in such viscera as the kidney and/or the liver and that they are mediated by vitamin D and parathormone.

Antley-Bixler syndrome: description of two patients

The Antley-Bixler syndrome comprises malformations of cartilage and bone. The essential signs are a dysmorphic facies with flattening of the central region of the face, humeroradial synostosis with flexed attitude of the upper limbs and swelling of the distal interphalangeal and metacarpophalangeal articulations. Congenital atresia of the nasal choanae, which is often present, makes the prognosis of this syndrome extremely severe. Two patients affected by the syndrome are described. Atresia of the nasal choanae was absent in both. The first patient had genital ambiguity, a condition which has been described in the literature in only two other cases; the second one had all the fundamental characteristics of the syndrome except for humeroradial synostosis, although hypoplasia of the lateral condyle of the humerus and dislocation of the radius are present in association with synostosis between the 2nd metatarsal and the intermediate cuneiform.

Study of the bone pathology in early mucolipidosis II (I-cell disease)

Histological examination of the bones obtained on autopsy of a 5-month-old child with mucolipidosis II (I-cell disease) revealed inhibition of the growth plate calcification with defective vascular invasion and signs of hyperparathyroidism. These findings are the chondro-osseous basis of the early radiological ricket-like appearance of bones in the neonatal period or soon thereafter. Whether the early skeletal abnormalities of mucolipidosis II result from a primary enzymatic defect of cartilage and bone cells or from factors controlling bone metabolism deserves further study.

Rectal extrusion of the catheter and air ventriculography following bowel perforation in ventriculo-peritoneal shunt

Ventriculo-peritoneal shunt is frequently carried out in infantile hydrocephalus. The peritoneal shunt has a lower morbidity than ventriculo-atrial shunts and severe complications are uncommon. Abdominal complications include intestinal perforation, shunt migration, inguinal hernia, cerebrospinal fluid pseudocysts and hollow viscus perforation. A few cases of catheter extrusion from the rectum, vagina, umbilicus and urethra have been described. We report a new case of intestinal perforation with rectal extrusion of the catheter associated with a ventriculogram.

Non‐progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity

Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. Twelve years of follow up did not show any signs of decerebration or further intellectual decline; only speech was, and still is, absent.

Infantile hepatic hemangioendothelioma treated by radiotherapy

Infantile hepatic hemangioendothelioma is a rare tumor of infancy, sometimes associated with cutaneous hemangiomatosis. It is clinically evident within the first six months after birth and can be life threatening because of heart failure, intraperitoneal hemorrhage or thrombocytopenia. In less severe forms spontaneous regression has been described. Current treatment may be surgical ligation of the hepatic artery, or pharmacological therapy with corticosteroids or radiotherapy. A 4-month infant is described, admitted with acute heart failure and huge hepatomegaly. Since a surgical approach was not possible and corticosteroid therapy failed to achieve the expected effect, radiotherapy was given with excellent results.

Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis

Muscle phosphofructokinase (PFK) deficiency in man is responsible for at least two forms of myopathy; one is characterized by painful contractures of muscles and typically occurs in adults, whereas the other is often disabling and typically occurs in childhood, with psychomotor and growth retardation. In this investigation, a young myopathic patient with severe mental retardation and aplasia of the cerebellar vermis presented with muscular hypotrophy of the limbs, generalized hypotonia, convergent strabismus and marked pain during passive movement. Biopsy of quadriceps femoris muscle showed variation in the fiber size with sarcoplasmic areas positive for periodic acid-Schiff stain. Histochemical qualitative reaction for PFK showed no staining of muscle fibers; ultrastructural studies showed abnormal accumulation of glycogen granules in both intermyofibrillar and subsarcolemmal areas. While some enzyme activities in the muscular crude extract were significantly lower than in controls, direct assay of PFK revealed no activity, thus demonstrating that the childs myopathy was due to the lack of PFK activity.