Biomedical subjects
Publications and source records attributed to G Lanzi.
We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).
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Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder transmitted in an autosomal dominant fashion. FSHD has been located by linkage analysis in the most distal part of chromosome 4q. The disease is associated with deletions within a 3.2 kb tandem repeat sequence, D4Z4. We have studied a family in which an abnormal chromosome 4 segregates through three generations in phenotypically normal subjects. This chromosome is the derivative of a (4;D or G) (q35;p12) translocation. Molecular analysis of the region 4q35 showed the absence of the segment ranging from the telomere to locus D4F104S1. Probe p13E-11 (D4F104S1), which detects polymorphic EcoRI fragments containing D4Z4, in Southern blot analysis showed only one allele in the carriers of the abnormal chromosome 4. Probe p13E-11 EcoRI fragments are contained in the subtelomeric region of 4q and their rearrangements associated with FSHD suggested that the gene responsible for the muscular dystrophy could be subject to a position effect variegation (PEV) because of its proximity to subtelomeric heterochromatin. The absence of the 4q telomeric region in our phenotypically normal cases indicates that haploinsufficiency of the region containing D4Z4 does not cause FSHD.
PURPOSE: To evaluate the involvement of central visual pathways in cases of periventricular leukomalacia, and to correlate the neuroradiologic findings with the degree of visual acuity. METHODS: The MR brain examinations of 27 preterm children affected by cerebral palsy resulting from periventricular leukomalacia and without significant ophthalmologic lesions were reviewed retrospectively to search for possible involvement of the optic radiations and/or of the calcarine cortex. The data were compared with the degree of visual acuity estimated by means of the Teller Acuity Cards test. RESULTS: Seventeen (63%) of the 27 patients had cerebral visual impairment, which correlated strongly with MR lesions. Quantitative reduction and signal hyperintensity of the peritrigonal white matter and atrophy of the calcarine cortex were present in the more severe cases. In two blind patients, an altered MR signal was detected in the lateral geniculate bodies. CONCLUSION: This study clearly establishes a relationship between specific MR findings and visual impairment in children with periventricular leukomalacia. The finding of hyperintensity in the lateral geniculate bodies was interpreted as an axonal reaction. MR imaging is useful for detecting potential visual impairment and for improving clinical diagnosis.
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The natural history of SMA and the identification of predictive criteria of functional development are still a matter of discussion. This prospective study involved 20 children with SMA, aged between 3.10 and 15.7 years. The patients were followed from 1979 to 1992 in order to try to develop a greater understanding of the natural history of SMA at a very early age. A standardized protocol was used at regular intervals to assess parameters such as joint contractures, scoliosis and the milestones of gross motor functions. Our findings agree with the data in the literature concerning the early and generalized onset of joint contractures and scoliosis. A significant correlation was found between the level of acquired gross motor functions and walking with support. The acquisition of rolling by 5 years of age was the milestone that best correlated with the acquisition of walking with crutches and braces; furthermore the inability to roll seemed to correlate with the severity of the disease. These findings should be useful in planning a more rational rehabilitation program.
Measurement of central motor conduction time (CMCT) after percutaneous magnetic stimulation of the brain is an electrophysiological method that may discover subclinical impairment of central nervous system (CNS). In order to detect an impairment of CNS, we measured CMCT right (R) and left (L) after percutaneous stimulation of the brain in 34 patients affected by insulin-dependent diabetes mellitus (IDDM) (16 males and 18 females), aged 16.4 +/- 4.1 years (7.3-23.2 years), with duration of disease 7.6 +/- 4.9 years (7/12-16 years), and HbA1c annual mean 7.41 +/- 1.1% (n.v. 5.14 +/- 0.84%). Twenty-three sex- and age-matched healthy subjects served as controls. In our IDDM patients we observed a delay of CMCT R (P < 0.0005) and L (P < 0.0005) as compared to controls. No correlation was found between CMCT (R and L) and chronologic age, duration of disease, peroneal motor nerve conduction velocity. No association was observed between CMCT (R and L) and HLA antigens. On the basis of IDDM duration, patients were divided into 2 groups (G): G I (9 pts) with IDDM < 2 years and G II (25 pts) with IDDM > 5 years, 12 of them with precocious signs of one or more microangiopathic complications. No difference in CMCT (R and L) was observed between the 2 groups and between G I and controls; G II patients had a longer delay of CMCT R (P < 0.0001) and L (P < 0.0001) than controls. In G II patients, a positive correlation between CMCT R and HbA1c of the 5 years before the test (P < 0.025) was also observed.(ABSTRACT TRUNCATED AT 250 WORDS)
There are few reports in the literature dealing with the association between mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and epilepsia partialis continua (EPC) in children. We report the case of a child presenting with numerous stroke-like episodes associated with EPC which, despite therapy, were not controlled and aggravated the clinical condition of our patient. We present the neuroradiological, biochemical, genetic and muscle biopsy findings, and EEG characteristics, with attention to polygraphic recordings which were done during wake and sleep periods. We consider the correlation with other possible etiological factors relating to EPC and in particular coinvolvement of the basal ganglia as a cause of EPC in our patient.
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We studied the seizure and polygraphic patterns of 18 patients with Angelman's syndrome. All patients showed movement problems. Eleven patients were also reported to have long-lasting periods of jerky movements. The polygraphic recording showed a myoclonic status epilepticus in nine of them. Seven patients had partial seizures with eye deviation and vomiting, similar to those of childhood occipital epilepsies. These seizures and electroencephalographic patterns suggest that Angelman's syndrome occurs in most of the patients as a nonprogressive, age-dependent myoclonic encephalopathy with a prominent occipital involvement. These findings indicate that, whereas ataxia is a constant symptom in Angelman's syndrome, the occurrence of a transient myoclonic status epilepticus may account for the recurrence of different abnormal movements, namely the jerky ones.
This paper compares four systems for the classification of pervasive developmental disorders: DSM-III-R, ICD-10, the French classification of mental disorders in children and adolescents and Manzano and Palacio-Espasa's operational classification. Five children were examined according to a protocol which included clinical and instrumental examination, the BSE scale, a development scale and a psychodynamic observation recorded by video camera. A detailed discussion of the diagnosis of one of the cases is reported as an example, while a synthetic description is given of the other four. The comparison highlights the characteristics of the four systems considered. The differing theoretical premises which inspire them mean that it is important to use all four in the clinical investigation of each case: DSM-III-R and ICD-10 can be used for the initial screening, whilst the other two can be used to classify more specifically all the forms of infantile psychosis.
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We examined clinical aspects of Benign Paroxysmal Vertigo (BPV) in infancy and its most frequent differential diagnosis, in particular analogies and differences with forms of "migrainous vertigo" (MV) of later onset. During a long-term follow-up of 7 cases of BPV, diagnosed according to the Basser criteria, 5 of 7 BPV cases spontaneously resolved and 6 of 7 patients later developed migraine and other migraine-related symptoms. This course differs from that described for MV only in the age of onset of headache and in the chronological relationship with vertigo. The authors suggest that BPV can be interpreted as a migraine precursor and MV as a migraine equivalent.
We describe outcome at 5-7 years of 37 subjects with periventricular leukomalacia (PVL). Children were divided into 3 groups based on PVL type and clinical outcome. Subjects with cystic PVL > or = 5 mm-1 cm or more (n = 14) all developed CP. CP was found in only 2 subjects out of 11 with cystic PVL < 5 mm. One had GII < 70 according to McCarthy's Scales of Children's abilities. Mild neurological signs were present in 7 and 1 child was normal. Subjects with so-called "prolonged flare" (n = 12) included 6 CP cases, 4 with mild neurological signs and 2 normal subjects. Prognosis was related to site and number of cysts. Cognitive profiles tended to be disharmonic, with discrepancies between verbal, performance and motor scores. We conclude that PVL represents an important diagnostic tool in both short and long-term neurodevelopmental outcome.
We studied a group of young migraine with aura patients with whom it was possible to reconstruct the course and the characteristics of the disturbances preceding or accompanying the onset of the headache. The 47 subjects, 31 female and 16 male, were diagnosed (IHS classification) as Migraine with typical aura (n = 40), Familial hemiplegic migraine (n = 1), Basilar migraine (n = 6), and Migraine with prolonged aura (n = 5). Visual (43 cases) and sensory disturbances (20 cases) were the most commonly described symptoms; a motor deficit was reported in 10 out of 47 cases. Other disturbances such as vertigo attacks, aphasia, spatial disorientation, loss of consciousness or a decreased level of consciousness with the appearance of automatic movements, were much rarer. In our cases the visual disturbances were not isolated but were accompanied by other symptoms in 29 cases, and in 5 of the 18 cases in which there were only visual symptoms, the disturbances presented in succession; a "march" of the sensory and motor disturbance was found in 66% and 68% of cases, respectively. The data from our cases in which the disturbance seems most frequently to originate in the occipital areas (visual disorders) and then to spread to the temporo-parietal regions in part confirms that there is a posterior to anterior dynamic in the cerebral areas involved.
The authors studied the patterns by which children and adolescents with spinal amyotrophy face their disease and the psychological difficulties involved. Five case histories regarding forms II and III of spinal amyotrophy are discussed in detail. Intense and recurrent anguish about death and the image of a narcissistically injured self were found to be present in all patients. We believe that these are the emotional elements that are most important in influencing the development of the child's relations with his own mental objects. This should be taken into account in any type of approach to the treatment of patients with this disease.