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Biomedical subjects

G Sorge

Publications and source records attributed to G Sorge.

At least 19 recordsLinked to original sources
PubMed2006

[Multiple arterial ischemic strokes in a child with moyamoya disease and Mycoplasma pneumoniae infection].

Moyamoya disease is a rare disorder characterised by a progressive occlusion or stenosis of the distal portions of bilateral internal carotid arteries with the development of a network of collateral vessels. Pediatric patients show transient ischemic attacks or strokes; diagnosis is made on the basis of clinical and radiographic findings. The case of a 2-year-old female, which after a Mycoplasma pneumoniae infection presented multiple cerebral strokes is reported. A diagnosis of moyamoya disease was made on the basis of neuroradiological findings; neurological complications due to Mycoplasma infection are reported and the relationship between disease and infection are discussed.

Carotid Artery, Internal↗
PubMed2005

Neonatal hypophosphatasia and seizures. A case report.

Hypophosphatasia is a rare genetic disease characterized by deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, excessive urinary excretion of phosphoethanolamine, poor bone mineralization and skeletal anomalies. The shortage of alkaline phosphatase (ALP) alters the process of mineralization of skeleton causing a reduced transformation of phosphoethanolamine into phosphatidylethanolamine (cerebral phospholipid) with consequent high serum and urinary levels of phosphoethanolamine, a sensitive and highly specific marker for the disease. Four clinical forms have been described based on the age of onset with different courses and prognoses. An unusual case of lethal perinatal hypophosphatasia associated with seizures observed in a newborn admitted to Neonatal Intensive Care Unit of the University of Catania is described.

Chromatography, Ion Exchange↗
PubMed2004

[Oral-facial-digital syndrome type I. A case report].

Oral-facial-digital syndrome type I (OFDI) is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease. The gene, responsible for this syndrome, is ofd1. Clinically it is seen only in females. Lesions of the mouth include median pseudoclefting of the upper lip, clefts of the palate and tongue, and dental anomalies (missing or supernumerary teeth, enamel hypoplasia, and teeth malpositions). Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. The digital abnormalities are syndactyly, clinodactyly, brachydactyly and, rarely, pre or post-axial polydactyly. Less frequently ex-pressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. Sometimes the diagnosis of OFDI can be difficult because there is an overlap with other types of oral-facial-digital syndromes. A sporadic case of OFDI, with 7 lower incisors, both in the primary and permanent dentition, is reported. This dental anomaly is very unusual because in literature only supernumerary cuspids are reported. In the light of this case, the authors discuss the oral phenotypic expression of ofd1 gene and its role in human odontogenesis.

Child↗
PubMed2003

[Early-onset of primary intestinal lymphangiectasia. A case report and diet treatment].

Primary intestinal lymphangiectasia is a rare disorder, characterized by hypoproteinemia due to obstruction of the intestinal lymphatic vessels and loss of lymph fluid in the gastrointestinal tract. The case of a 3-month old patient with protein-losing enteropathy due to a primitive intestinal lymphangiectasia diagnosed with duodenal histology is reported. The adapted formula was replaced by a formula enriched with medium-chain triglycerides (MCT) and the patient presented a clinical and biochemical improvement. The importance of an early diagnosis and the efficacy of treatment with MCT is stressed.

Female↗
PubMed2002

Guillain-Barré syndrome after varicella zoster virus infections. A case report.

The case of a 13 year-old patient affected by Guillain-Barré syndrome developed after varicella zoster virus infection is reported. Cerebrospinal fluid examination and motor and sensory conduction velocity were consistent with GBS. Antibodies against gangliosides GM1 were present; it is likely that some of these may play an important role in the pathogenesis of syndrome after varicella infection. The therapy was carried out with increasing high-doses of immunoglobulins, with full clinical recovery.

Adolescent↗
PubMed2001

Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy.

In this report we present a subject affected by nevoid basal cell carcinoma syndrome (NBCCS), showing also bilateral mandibular coronoid processes hyperplasia, a hitherto unreported association. Our observation of bilateral hyperplasia of the mandibular coronoid processes in a boy with NBCCS may prompt a retrospective and prospective review of other patients affected by this syndrome in order to establish if this anomaly is part of it.

Adolescent↗
PubMed2000

Pallister-Killian syndrome: case report with pineal tumor.

Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.

Abnormalities, Multiple↗
PubMed2000

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical region." In each deleted patient, the deletion was demonstrated to be terminal by fluorescence in situ hybridization (FISH). The proximal breakpoint of the rearrangement was established by prometaphase chromosome analysis in cases with a visible deletion. It was within the 4p16.1 band in six patients, apparently coincident with the distal half of this band in five patients. The extent of each of the four submicroscopic deletions was established by FISH analyses with a set of overlapping cosmid clones spanning the 4p16.3 region. We found ample variations in both the size of the deletions and the position of the respective breakpoints. The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria, which in turn may facilitate the selection of critical patients in the search for the gene(s) responsible for this disorder. We observed that genotype-phenotype correlations in WHS mostly depend on the size of the deletion, a deletion of <3.5 Mb resulting in a mild phenotype, in which malformations are absent. The absence of a detectable molecular deletion is still consistent with a WHS diagnosis. Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.

Abnormalities, Multiple↗
PubMed2000

Aggressive behavior in patients with Sotos syndrome.

Sotos syndrome is characterized by peculiar facies, prenatal and postnatal overgrowth, and developmental delay. The course of six patients with psychiatric, neurologic, and magnetic resonance imaging evaluations is reported. Three (50%) of the six patients were observed to have a tendency toward aggressiveness, including one who had pyromania.

Aggression↗
PubMed1998

Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.

We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.

Adolescent↗
PubMed1997

Familial broad terminal phalanges with one individual showing additional anomalies.

We describe a family with four relatives showing broad terminal phalanges (BTP) of the fingers and toes. One also had mental retardation, an unusual facial appearance, cleft palate with bifid uvula, and gingival hyperplasia. The BTP anomaly in this family seems to be transmitted as an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1997

Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family.

We described another previously apparently unreported form of acrofacial dysostosis (AFD) from Sicily, residing, coincidentally in the same small village as that with the recently delineated Catania AFD. In contra-distinction to the latter, the 4 patients with the Palagonia form of AFD are of normal intelligence, and instead of extensive caries have oligodontia (4), short stature (3), frizzy hair (pili torti) with aplasia cutis verticis (1), mild cutaneous syndactyly of digits 2-5 (4), attenuation of the 4th metacarpals (3/3), unilaterally cleft lip (1), and some vertebral anomalies such as a large atlas (1), mild scoliosis (1), small odontoid process, spina bifida occulta at S1 (1). Casually, this would appear to be an iceberg dominant disorder, with the proposita most severely affected. This could be an X-linked dominant, but more likely an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1997

Autosomal dominant and sporadic radio-ulnar synostosis.

We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.

Adult↗
PubMed1997

Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism.

We describe a 4-year-old boy affected by congenital hypothyroidism (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, pectus carinatum and slight scoliosis, psychomotor delay, growth retardation and a severe hypoplasia of the right cerebellar hemisphere and vermis. Given the finding of unilateral cerebellar pathology this unusual association might be explained by an insult in utero--more environmental than genetic. However, to the best of our knowledge, a relationship between CH and cerebellar anomalies has not been previously reported.

Cerebellum↗
PubMed1997

Tuberculosis of the ankle in childhood: clinical, roentgenographic and computed tomography findings.

We report on three Italian children who presented with unilateral ankle tuberculosis (TB) consecutively during a short time period and in the same geographical area. A 6-year-old-girl with a family history of TB had limited mobility of the right leg at age 9 months; Mantoux test and radiographs at that age yielded normal findings. When severe right tibiotarsal swelling, reddening, pain and restriction of motion became apparent at age 4.6 years, the typical lesions of TB were evident on radiographs and computed tomographic (CT) scans. Mantoux test and synovial biopsy confirmed TB. A three-drug regimen of treatment proved useless: articular cartilage destruction and diffuse osteosclerosis ensued. Only a four-drug prolonged regimen of treatment proved to be somewhat effective. A 5-year-old girl had a 6-month history of painless swelling and limited mobility of the ankle; radiographs and CT showed osteopenia with marginal erosion of cartilages. A 14-month-old boy presented with a 2-week history of painless swelling ankle. Radiographs showed decreased bone density of talocalcanear bones. Mantoux test and synovial biopsy confirmed TB in both patients; treatment with a three-drug regimen greatly reduced symptoms. A careful suspicion of the diagnosis of tuberculosis is paramount in children with chronic or subacute monoarticular arthritis, even in absence of a positive tuberculin test or abnormalities on chest radiograph. When negative early on, the tuberculin test should be repeated after 6 weeks of arthritis, and a needle biopsy of the synovium is required in those children with monoarticular arthritis and a positive tuberculin test. Careful therapy is necessary to avoid sequelae that may lead to severe osteoarticular damage.

Ankle Joint↗