Life-threatening neurological syndrome in Down's syndrome.
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Adult↗
Biomedical subjects
M Ruggieri
Publications and source records attributed to M Ruggieri.
Soluble intercellular adhesion molecule-I (sICAM-I) in serum and cerebrospinal fluid of demyelinating diseases of the central and peripheral nervous system.
Serum and cerebrospinal fluid (CSF) soluble intercellular adhesion molecule-I (ICAM-I) levels were evaluated (ELISA) in 22 untreated and 13 corticosteroid-treated active relapsing remitting (RR) Multiple Sclerosis (MS), in 10 untreated and 10 corticosteroid-treated Guillain-Barré syndrome (GBS) and in 17 non-inflammatory neurological diseases (NIND). Twenty-eight clinically inactive RR MS were assayed for serum sICAM-I before and after 3 months treatment of 8 MIU rIFN beta-Ib taken s.c. every other day. High sICAM-I serum levels above the NIND values were found in untreated clinically active MS and in untreated GBS (P < 0.05) but not in the untreated clinically inactive MS group. The active MS group showed significantly (P = 0.0001) higher sICAM-I serum levels if compared to the inactive group. Corticosteroid-treated active MS and GBS patients showed lower (P < 0.05) serum sICAM-I levels than the corresponding untreated groups. Serum sICAM-I levels after 3 months of rIFN beta-Ib treatment (P < 0.0001, paired t-test) resulted increased compared to pretreatment values in MS. The mean values of CSF/serum sICAM-I:CSF/serum Albumin ratios (sICAM-I Index) in active untreated MS patients were higher compared to NIND (P < 0.005) and to corticosteroid-treated MS group (P = 0.01). sICAM Index values in GBS did not differ from those in NIND. The results seem to suggest potential roles for serum sICAM-I in downregulating the ongoing inflammatory response at the blood-brain barrier level and for CSF sICAM-I in the maintenance of a central nervous system local immune response.
Adrenal Cortex Hormones↗
Serum soluble intercellular adhesion molecule-I in MS: relation to clinical and Gd-MRI activity and to rIFN beta-Ib treatment.
The validity of serum sICAM-I levels to assess Multiple Sclerosis (MS) activity was evaluated in 49 untreated definite relapsing-remitting (RR) patients. sICAM-I levels were significantly (P = 0.0009) higher in the 'clinically active' group (No 22) than in the 'clinically inactive' (No 27), whereas no different values were found between patients with Gd-enhancing lesions at MRI (Gd-positive) (No 32) and patients without such lesions (Gd-negative) (No 17) independently of their clinical activity. Among the 'clinically active' MS, the Gd-positive (No 16) subgroup showed significant (P < 0.05) lower sICAM-I levels when compared to the Gd-negative (No 6) subgroup, but higher (P = 0.009) than those of the 'clinically inactive Gd-positive' (No 16) patients. The sICAM-I levels did not differ between the two 'clinically inactive' subgroups Gd-positive (No 16) and Gd-negative (No 11). Finally the clinically active Gd-negative (No 6) showed sICAM-I levels higher (P = 0.002) than the clinically inactive Gd-negative (No 11). The specificity of high serum sICAM-I levels (above M +/- 2 s.d. of control values) to assess the disease activity in MS resulted higher (100%) using clinical than Gd-MRI activity (76%) as gold standard. The changes induced by 1 year recombinant Interferon-beta-Ib (rIFN beta-Ib) treatment on sICAM-I serum levels were also longitudinally investigated in 36 of the 49 RR MS. sICAM-I levels at baseline significantly increased in the first 2 months (baseline vs 1st month P < 0.0001 and 1st vs 2nd month P = 0.02), persisted at high levels without any significant change after 3 months, showed a temporary decrease at 6 months, then significantly increased again at 9 and 12 months. Fourteen patients experienced relapses, with a total of 20 relapses, during the whole treatment duration. The mean relapse/rate and the frequency of patients with Gd-positive MRI scans resulted significantly higher in the first semester compared to the second semester of treatment. This study adds further insights into the validity of serum sICAM-I to assess disease activity in MS and on the immunomodulatory properties of rIFN beta-Ib.
Adjuvants, Immunologic↗
Familial osteoma of the cranial vault.
A case of solitary osteoma of the parietal skull is described in a mother and her 12-year-old son. There were no other craniofacial or dysmorphic features and there was no history of previous cranial trauma or inflammatory process and no radiographic evidence of other skeletal lesions in both patients. Family history was otherwise unremarkable. Gardner syndrome was ruled out by excluding other associated clinical abnormalities and by family history. The clinical and radiological features of the patients' osteomas were different from those of Albright hereditary osteodystrophy, fibrodysplasia ossificans progressiva, progressive osseous heteroplasia and familial ectopic ossification. To the author's knowledge this is the first case of the familial presentation of osteomas.
Adolescent↗
Thalamic syndrome in children with measles infection and selective, reversible thalamic involvement.
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Cerebral Veins↗
[Epidermoid cyst of the testicle: presentation of a case].
OBJECTIVE: To describe a case of epidermoid cyst of the testis, a rare lesion that warrants surgical exploration to confirm the diagnosis since its echo patterns are characteristic but not pathognomonic. METHODS/RESULTS: 10 years earlier the patient had noticed an asymptomatic swelling of the right testis which did not cause infertility since he had two children over the last 6 years. Tumor markers AFP, BHCG and LDH fell within the normal ranges. Ultrasound evaluation with a high resolution 7.5 Mhz transducer revealed a 4 x 3.5 x 3.2 cm testicular mass surrounded by atrophic parenchyma. The patient underwent radical inguinal orchidectomy. CONCLUSIONS: Epidermoid cyst is the benign variety of testicular teratoma. Two different forms exist: simple and mixed. Malignant components are present in the latter form. If the simple form is identified before substitution of the testicular parenchyma occurs, testis sparing surgery is justified; otherwise radical orchidectomy with inguinal exploration is indicated.
Adult↗
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↗
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↗
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.
We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of them and showed the typical findings of tuberous sclerosis complex (TSC) in the central nervous system (CNS), kidneys, heart, and liver. The fourth sib, currently 2 years old, also has typical signs of TSC, namely hypomelanotic skin macules and calcified subependymal nodules. Both parents and a living maternal grandmother had appropriate examination, which included skin inspection under Wood's lamp, dental examination, fundoscopy, echocardiography, abdominal and renal ultrasound, and head CT and MRI scans, and no signs of TSC were found in either parent or in the only living grandmother. By history alone there is no other relative with signs or symptoms suggestive of TSC. Linkage analysis and loss of heterozygosity (LOH) investigations on a variety of lesions obtained from postmortem and tissue or blood specimens from all available family members studied failed to identify a microdeletion in the chromosomal regions where TSC genes are located. It is very unusual that in a single TSC family there were three consecutive neonatal deaths, and very likely that all had cardiac rhabdomyomas. Moreover, to the best of our knowledge, there are no previous reports of TSC families with more than one affected sib, unusually severe manifestations of the disease, and completely normal, consanguineous parents.
Child, Preschool↗
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↗
SHORT syndrome: a new case with probable autosomal dominant inheritance.
A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed a striking similarity to the propositus. Moreover, the sister had bilateral and symmetrical lens opacities, which have not been reported previously in affected subjects or their relatives. A variable expression of an autosomal dominant gene can be considered in the present family.
Abnormalities, Multiple↗
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.
To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients. Overall, eight angiomyolipomas, eight giant cell astrocytomas, one cortical tuber, and three rhabdomyomas were analyzed. Loss of heterozygosity at either TSC locus was found in a large fraction of the informative patients, both sporadic (7/14) and familial (1/4). Interestingly, a statistically significant preponderance of loss of heterozygosity at TSC2 was observed in the sporadic group (P < 0.01). Among the possible explanations considered, the bias in the selection for TSC patients with the most severe organ impairment seems particularly appealing. According to this view, a TSC2 defect might confer a greater risk for early kidney failure or, possibly, a more rapid growth of a giant cell astrocytoma. None of the seven antioncogenes tested showed loss of heterozygosity, indicating that the loss of either TSC gene product may be sufficient to promote hamartomatous cell growth. Finally, the observation of loss of heterozygosity at different markers in an astrocytoma and in an angiomyolipoma from the same patient might suggest the multifocal origin of the second-hit mutation.
Chromosome Deletion↗
Pulmonary valve stenosis in a patient with ataxia telangiectasia.
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Adult↗
Multiple sclerosis with onset at 35 months of age.
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Adolescent↗
Early fatal course in three brothers with FG syndrome.
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Abnormalities, Multiple↗
Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens).
We report our clinical and neuroradiologic findings in 13 patients affected by hypomelanosis of Ito. Seven patients were boys and six were girls; their ages ranged from 11 months to 16 years. Neurologic signs were present in all but two cases, and they consisted of language disabilities, seizures, hypotonia, mental retardation, and autistic behavior. MRI was performed in all patients. We observed anomalies of the white matter in seven of the 13 patients; all but one of these seven had neurologic signs that included seizures, hypotonia, language disabilities, and mental retardation. The abnormal signals in the white matter were mostly located in the parietal periventricular and subcortical regions of both hemispheres. Moreover, we found asymmetry of the cerebral hemispheres in one of our 13 patients and atrophy of the cerebellar vermis in another patient, with no involvement of the white matter in either. In the remaining four of the 13 patients results of MRI appeared normal. There was a relationship between the anomalies in the central nervous system at MRI, as a whole, and the neurologic manifestations, even though two patients with apparently normal images on MRI had partial and generalized tonic clonic seizures, respectively. A correlation was also found between white matter anomalies and neurologic signs; extended and deep changes in white matter images were associated with more severe neurologic abnormalities and delayed language milestones appeared to be a constant finding in this group of patients. These anomalies of the white matter, which did not progress over time, resembled those seen in other neurocutaneous syndromes. The hypothesis is presented that underlying disarray of cortical lamination or neuronal loss with subsequent wallerian degeneration and altered or delayed myelination could be the cause of the abnormal findings on MRI.
Adolescent↗
Ossifying fibroma of the skull in a patient with neurofibromatosis type 1. Case report.
Ossifying fibroma is a rare, benign, primary bone tumor that occurs most commonly in the mandible; a cranial vault location is extremely rare. In this report a case of symptomatic frontoparietotemporal ossifying fibroma with intracranial growth and cerebral displacement in a 12-year-old boy with neurofibromatosis type 1 (NF1) is described. Once excised the lesion did not recur. The skeletal system is frequently affected in NF1, and bone abnormalities are present in 50% to 70% of patients with this condition. The etiology of such lesions in NF1 is still controversial. To the authors' knowledge, ossifying fibromas of calvarial bones have not been described in NF1.
Child↗
[pT1G3 tumor of the bladder].
The management of the superficial bladder tumor is commonly performed by transurethral resection (TUR) and a following chemotherapy or immunotherapy with exception of Tis. A lot of doubts and questions raise in the management of pT1G3 bladder tumor (BT) for the high grade of recurrencies and progressions. Our experience from 1984 to 1994 about 109 patients (pts) with pT1G3 BT undergone to radical cystectomy (47 pts) and TUR (62 pts) allows us to state that when Tis is present a radical cystectomy is mandatory, but the TUR option must be followed to frequent and accurate random biopsies in order to discovery foci of Tis. In the case of pT1G3 monofocal there is always a therapeutic disconcerting.
Administration, Intravesical↗