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1.
Acta Neurol Belg ; 123(3): 903-909, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36068432

ABSTRACT

OBJECTIVE: To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature. METHODS: A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al. RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId). CONCLUSIONS: Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.


Subject(s)
Dandy-Walker Syndrome , Hydrocephalus , Urogenital Abnormalities , Pregnancy , Female , Child , Humans , Dandy-Walker Syndrome/complications , Dandy-Walker Syndrome/diagnostic imaging , Retrospective Studies , Hydrocephalus/complications , Urogenital Abnormalities/complications , Magnetic Resonance Imaging
2.
Eur Rev Med Pharmacol Sci ; 24(12): 6893-6898, 2020 06.
Article in English | MEDLINE | ID: mdl-32633382

ABSTRACT

OBJECTIVE: Primary headache disorders in children are one of the most prominent topics in the pediatric neurology literature. However, there are many unsolved aspects, including the conditions associated with migraine. The present study aims to report on the frequency of behavioral comorbidities in the setting of primary headache in childhood. PATIENTS AND METHODS: In this study, we enlisted 475 children (290 males and 185 females; ratio 1.6:1), aged 4 to 14 years, who were affected by primary headache. In direct interviews, children and parents gave information on the association of their headache with, attention-deficit/hyperactivity disorder, learning disabilities, tics, anxiety, depression, and obsessive-compulsive disorder. Other 475 children with no history of headache or recognized neurological conditions were matched for age, sex, race, and socioeconomic status and were used as controls. RESULTS: A significant association of primary headache was found with anxiety and depression (p-value <0.001); overall, behavioral disorders were more common in children who experienced headache than in controls (p-value <0.001). CONCLUSIONS: Primary headache in children is not associated with most of the common behavioral conditions. On the contrary, there was a significant association with anxiety and depression, as reported in adults.


Subject(s)
Anxiety Disorders/complications , Depression/complications , Headache/complications , Adolescent , Case-Control Studies , Child , Child, Preschool , Female , Humans , Italy , Male , Social Class
3.
Eur J Neurol ; 26(9): 1226-1234, 2019 09.
Article in English | MEDLINE | ID: mdl-31132195

ABSTRACT

BACKGROUND AND PURPOSE: Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG and to characterize phenomenology based on CDG subtypes. METHODS: Subjects were identified from a cohort of patients with CDG who were referred to the University Hospital of Catania, Italy. Patients were evaluated by neurologists with expertise in movement disorders and videotaped using a standardized protocol. RESULTS: A variety of hyperkinetic movement disorders was detected in eight unrelated CDG patients. Involuntary movements were generally observed early in childhood, maintaining a clinical stability over time. Distribution ranged from a generalized, especially in younger subjects, to a segmental/multifocal involvement. In patients with phosphomannomutase 2 CDG, the principal movement disorders included dystonia and choreo-athetosis. In patients affected by other CDG types, the movement disorders ranged from pure generalized chorea to mixed movement disorders including dystonia and complex stereotypies. CONCLUSIONS: Hyperkinetic movement disorder is a key clinical feature in patients with CDG. CDG should be considered in the differential diagnosis of childhood-onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism or seizure disorder.


Subject(s)
Congenital Disorders of Glycosylation/complications , Hyperkinesis/etiology , Movement Disorders/etiology , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Female , Humans , Italy , Male
4.
Mol Genet Metab Rep ; 12: 85-91, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28702361

ABSTRACT

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months-4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p < 0,007), while it remained stable between the first home therapy infusion and last follow up. Interestingly, 4 out of 7 (57%) patients, showing an improvement in FD-related clinical status after starting home therapy, had previously a sub-optimal compliance to treatment during the period of hospital treatment management. Only 4 adverse non serious reactions (0,093%) were reported totally in 2 patients during home treatment. We conclude that home infusions in eligible patients with FD are safe, contribute to improve treatment compliance and therapeutic clinical outcomes, and may have a positive impact on self-perceived QoL.

5.
J Neurol ; 262(1): 154-64, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25355454

ABSTRACT

PMM2-CDG (PMM2 gene mutations) is the most common congenital disorder of N-glycosylation. We conducted a nationwide survey to characterize the frequency, clinical features, glycosylation and genetic correlates in Italian patients with PMM2-CDG. Clinical information was obtained through a questionnaire filled in by the referral physicians including demographics, neurological and systemic features, neuroimaging data and genotype. Glycosylation analyses of serum transferrin were complemented by MALDI-Mass Spectrometry (MALDI-MS). Between 1996 and 2012, data on 37 Italian patients with PMM2-CDG were collected. All the patients with a severe phenotype were unable to walk unaided, 84 % had severe intellectual disability and 81 % microcephaly. Conversely, among 17 mildly affected patients 82 % had independent ambulation, 64 % had borderline to mild intellectual disability and 35 % microcephaly. Epilepsy and stroke-like events did not occur among patients with the mild phenotype. The rate and extent of systemic involvement were more pronounced in severely affected patients. The L32R misfolding mutation of the PMM2 gene occurred in 70 % of the patients with the mild phenotype and was associated with a less severe underglycosylation of serum Tf at MALDI-MS analyses. Despite their different disease severity, all patients had progressive (olivo)ponto-cerebellar atrophy that was the hallmark clinical feature for the diagnosis. A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy. PMM2-CDG should be considered in patients with even mild developmental disability and/or unexplained progressive cerebellar atrophy.


Subject(s)
Congenital Disorders of Glycosylation/genetics , Congenital Disorders of Glycosylation/physiopathology , Olivopontocerebellar Atrophies/pathology , Phosphotransferases (Phosphomutases)/genetics , Severity of Illness Index , Adolescent , Adult , Child , Child, Preschool , Congenital Disorders of Glycosylation/complications , Disease Progression , Female , Humans , Italy , Male , Olivopontocerebellar Atrophies/etiology , Phenotype , Transferrin/analysis , Young Adult
6.
Clin Genet ; 81(3): 224-33, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21517827

ABSTRACT

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Fabry disease (FD) is an X-linked lysosomal storage disorder with a heterogeneous spectrum of clinical manifestations that are caused by the deficiency of α-galactosidase A (α-Gal-A) activity. Although useful for diagnosis in males, enzyme activity is not a reliable biochemical marker in heterozygous females due to random X-chromosome inactivation, thus rendering DNA sequencing of the α-Gal-A gene, alpha-galactosidase gene (GLA), the most reliable test for the confirmation of diagnosis in females. The spectrum of GLA mutations is highly heterogeneous. Many polymorphic GLA variants have been described, but it is unclear if haplotypes formed by combinations of such variants correlate with FD, thus complicating molecular diagnosis in females with normal α-Gal-A activity. We tested 67 female probands with clinical manifestations that may be associated with FD and 110 control males with normal α-Gal-A activity. Five different combinations of GLA polymorphic variants were identified in 14 of the 67 females, whereas clearcut pathogenetic alterations, p.Met51Ile and p.Met290Leu, were identified in two cases. The latter has not been reported so far, and both mutant forms were found to be responsive to the pharmacological chaperone deoxygalactonojirimycin (DGJ; migalastat hydrochloride). Analysis of the male control population, as well as male relatives of a suspected FD female proband, permitted the identification of seven different GLA gene haplotypes in strong linkage disequilibrium. The identification of haplotypes in control males provides evidence against their involvement in the development of FD phenotypic manifestations.


Subject(s)
Fabry Disease/genetics , Haplotypes , Mutation, Missense , alpha-Galactosidase/genetics , Adult , Child , Female , Humans , Male , Middle Aged , Phenotype
7.
Clin Genet ; 80(5): 452-8, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21070211

ABSTRACT

Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. Different clinical forms are described based on the age at onset. In reported series, the early infantile form (EIKD) accounts for more than 90% of the cases. The rarer late onset forms (LOKD) become manifest later than 6 months up to the adult age. We report clinical, imaging, mutational analysis and geographic data in a large cohort of individuals with Krabbe disease examined over a 30-year period. Retrospective analyses of disease onset and long-term follow-up were conducted in 26 KD patients. Molecular analysis was performed in 12 patients and their families. Nine cases had EIKD, and 17 LOKD, accounting for two thirds of our series. No correlation was found between enzymatic activity, onset age and disease progression. Despite common geographical origin, only in a few cases could parental consanguinity be proven. The p.Gly41Ser mutation was associated with longer survival. A wide spectrum of LOKD is found despite similar genotype. Although current knowledge about onset age, residual enzyme activity and molecular analysis still fail to allow the identification of patient candidates for treatment, this information is valuable for long-term outcome prediction and could lead to reconsideration of inclusion criteria for bone marrow transplant (BMT) or other future therapeutic approaches.


Subject(s)
Galactosylceramidase/genetics , Leukodystrophy, Globoid Cell/genetics , Adult , Age of Onset , Child , Child, Preschool , Cohort Studies , Consanguinity , Female , Follow-Up Studies , Humans , Infant , Leukodystrophy, Globoid Cell/epidemiology , Male , Mutation , Retrospective Studies , Survival Analysis
8.
Am J Med Genet A ; 149A(4): 722-5, 2009 Feb 15.
Article in English | MEDLINE | ID: mdl-19253388

ABSTRACT

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not been completely elucidated, the CDKL5 appears to be physiologically related to the MECP2 gene. Here we report on the clinical and CDKL5 molecular investigation in a very unusual RTT case, with severe, early-neurological involvement in which we have shown in a previous report, a novel P388S MECP2 mutation [Conforti et al. (2003); Am J Med Genet A 117A: 184-187]. The patient has had severe psychomotor delay since the first month of life and infantile spasms since age 5 months. Moreover, at age 5 years the patient suddenly presented with renal failure. The severe pattern of symptoms in our patient, similar to a CDKL5 phenotype, prompted us to perform an analysis of the CDKL5, which revealed a novel missense mutation never previously described. The X-inactivation assay was non-informative. In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that CDKL5 analysis is recommended in patients with a seizure disorder commencing during the first months of life.


Subject(s)
Mutation, Missense , Protein Serine-Threonine Kinases/genetics , Rett Syndrome/enzymology , Rett Syndrome/genetics , Adolescent , Age of Onset , Chromosomes, Human, X/genetics , DNA Mutational Analysis , Epilepsy/enzymology , Epilepsy/genetics , Female , Humans , Methyl-CpG-Binding Protein 2/genetics , Phenotype
9.
J Inherit Metab Dis ; 30(1): 107, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17186415

ABSTRACT

CDG Ia (phosphomannomutase deficiency) has a wide clinical spectrum with the most severe affected patients having multisystemic disease in addition to severe nervous system involvement. We report a patient with CDG Ia and an intermediate phenotype due to mild neurological impairment and borderline cognitive abilities despite the occurrence of typical extraneurological symptoms. These included liver involvement, coagulopathy and failure to thrive with enteropathy. Genotype analyses showed that he was compound heterozygous for T237R/C241S mutations. This observation underlines that the CDG Ia clinical spectrum may include intraindividual variability that might reflect different degrees of glycosylation abnormalities among distinct body compartments. CDG Ia should be considered in cases of unexplained liver involvement and/or enteropathy in patients with mild developmental delay and subtle neurological signs.


Subject(s)
Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/pathology , Congenital Disorders of Glycosylation/diagnosis , Congenital Disorders of Glycosylation/pathology , Phosphotransferases (Phosphomutases)/deficiency , Phosphotransferases (Phosphomutases)/genetics , Genotype , Glycosylation , Humans , Liver Diseases/diagnosis , Male , Mutation , Phenotype
10.
Neuropediatrics ; 35(4): 207-10, 2004 Aug.
Article in English | MEDLINE | ID: mdl-15328558

ABSTRACT

The authors report on a series of 72 patients (57 male, 15 female; aged from 4 to 21 years) affected by autism with the aim of evaluate their experience regarding the prevalence of seizure and/or epilepsy. Patients were divided into two groups: the first includes individuals (n = 54) affected by so-called idiopathic or primary autism which was further subdivided according to the grade of mental retardation (MR) and the second (n = 18) in which a known pathological event was associated to the autism (secondary autism). According to these results in the first group 12 % of autistic patients with moderate MR (i.e., IQ > 55) suffered from seizures but in three patients (9 %) they were occasional and only in one recurrent (i.e., epileptic) (3 %). Autistic patients with severe MR (i.e., IQ < 55) suffered from seizures in 20 % of the cases: in three the episodes were recurrent (15 %) and in one occasional (5 %). In the second group in which autism was associated to other morbidities 61 % (n = 11/18) had seizures, being recurrent in 10 (55 %). According to this series, in autism the risk of epilepsy is higher compared to the general population but it does not seem to be correlated to the autism itself, but rather to the associated co-morbidities and underlying brain dysfunction (overall prevalence of epilepsy in primary autism [4/54 or 7.4 %] vs. secondary autism [10/18 or 55 %]).


Subject(s)
Autistic Disorder/complications , Epilepsy/etiology , Adolescent , Adult , Brain/diagnostic imaging , Brain/pathology , Brain/physiopathology , Child , Child, Preschool , Epilepsy/diagnosis , Epilepsy/physiopathology , Female , Humans , Intellectual Disability/complications , Male , Radiography , Risk Factors , Severity of Illness Index
11.
J Inherit Metab Dis ; 26(4): 407-9, 2003.
Article in English | MEDLINE | ID: mdl-12971429

ABSTRACT

Dihydropyrimidine dehydrogenase (DPD) deficiency has been linked to 5-fluorouracil toxicity, but patients may present a wide clinical spectrum. We describe a 1-year-old Tunisian girl with a dramatic onset of neurological symptoms suggesting the possible triggering role of environmental factors.


Subject(s)
Dihydropyrimidine Dehydrogenase Deficiency , Dihydrouracil Dehydrogenase (NADP)/metabolism , Encephalitis/etiology , Intellectual Disability/etiology , Purine-Pyrimidine Metabolism, Inborn Errors/complications , Quadriplegia/etiology , Acute Disease , Female , Humans , Infant , Purine-Pyrimidine Metabolism, Inborn Errors/physiopathology , Reflex, Abnormal
12.
Neuropediatrics ; 33(4): 203-8, 2002 Aug.
Article in English | MEDLINE | ID: mdl-12368991

ABSTRACT

Aromatic L-amino acid decarboxylase (AADC - E.C. 4.1.1.28) converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Inherited deficiency of this enzyme leads to decreased brain levels of these neurotransmitters. Clinically this results in the development of a progressive neurometabolic disorder characterized by severe hypotonia, dystonic and choreoathetoid movements, oculogyric crises, and hypothermia from infancy. Here we describe the clinical, biochemical and molecular details of two affected brothers, one of whom, despite the lack of AADC, presented with hyperdopaminuria. In addition, we detail his reactions to treatment with dopaminergic agonists, monoamine oxidase inhibitors and pyridoxine.


Subject(s)
Aromatic-L-Amino-Acid Decarboxylases/drug effects , Aromatic-L-Amino-Acid Decarboxylases/deficiency , Dopamine/urine , Metabolism, Inborn Errors/drug therapy , Metabolism, Inborn Errors/urine , Aromatic-L-Amino-Acid Decarboxylases/genetics , Child , Child, Preschool , Dopamine/genetics , Humans , Infant, Newborn , Male , Metabolism, Inborn Errors/genetics
13.
Int J Tissue React ; 24(1): 23-8, 2002.
Article in English | MEDLINE | ID: mdl-12013150

ABSTRACT

Congenital disorder of glycosylation (CDG) type IA (phosphomannomutase deficiency) is the most common of a group of inherited metabolic disorders that are due to defective glycosylation of glycoproteins. CDG-IA is clinically characterized by major nervous system involvement and various organs are affected to a variable degree. Common clinical findings are skeletal changes including peculiar thoracic deformity and joint restriction, while a major radiological feature is diffuse osteopenia. The aim of this study was to measure bone density and biochemical markers of bone turnover in three patients with CDG-IA, whose age ranged between 14 and 27 years. We found that bone mass, as judged by standard densitometry, quantitative computed tomography and ultrasonography, was lower in patients than in age- and sex-matched healthy controls. Biochemical indexes of bone resorption including free pyridinoline levels in serum and pyridinoline and deoxypyridinoline urinary excretions were normal, whereas bone formation markers (serum osteocalcin and serum bone-specific alkaline phosphatase) activity were increased. These results suggest that low bone density is a component of CDG-IA, which should be considered among inherited metabolic diseases with decreased bone mass. We hypothesize that hypoglycosylation of noncollagenous bone proteins may contribute to the osteopenia observed in these patients. From a clinical point of view, our observation shows that bone density measurements can provide a quantitative assessment of bone involvement in such diseases.


Subject(s)
Bone Density , Carbohydrate Metabolism, Inborn Errors/metabolism , Phosphotransferases (Phosphomutases)/deficiency , Adolescent , Adult , Alkaline Phosphatase/blood , Bone and Bones/diagnostic imaging , Bone and Bones/enzymology , Female , Femur Neck/diagnostic imaging , Femur Neck/metabolism , Glycosylation , Humans , Lumbar Vertebrae/diagnostic imaging , Lumbar Vertebrae/metabolism , Male , Tomography, X-Ray Computed , Ultrasonography
14.
Pediatr Neurol ; 25(3): 254-7, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11587884

ABSTRACT

Sanfilippo disease, or mucopolysaccharidosis type III, results from the deficiency of lysosomal hydrolases, which impairs heparan sulfate metabolism. Clinically, the disease is characterized by a mild somatic phenotype combined with early severe neurodegenerative illness with prominent behavioral disturbance. We report clinical and molecular findings of a child with Sanfilippo disease type B (alpha-N>-acetylglucosaminidase deficiency) who presented at age 18 months with marked systemic involvement and normal initial psychomotor development. These findings suggest that atypical mucopolysaccharidosis type III patients may present with early somatic changes preceding the onset of overt neurologic symptoms and ensuring an early diagnosis and possible therapeutic intervention.


Subject(s)
Acetylglucosaminidase/deficiency , Child Development , Mucopolysaccharidosis III/diagnosis , Mutation, Missense , Alleles , Child, Preschool , DNA Mutational Analysis , Developmental Disabilities , Dysostoses/diagnostic imaging , Facies , Homozygote , Humans , Infant , Male , Mucopolysaccharidosis III/diagnostic imaging , Mucopolysaccharidosis III/enzymology , Phenotype , Radiography
15.
Neurogenetics ; 3(2): 111-3, 2001 Mar.
Article in English | MEDLINE | ID: mdl-11354825

ABSTRACT

Reduced adenosine deaminase (ADA) activity has been reported in sera of autistic children relative to controls. Additionally, the Asn allele of the ADA Asp8Asn polymorphism has been associated with reduced enzymatic activity. Therefore, we studied this polymorphism in autistic children and controls from two Italian populations. We observed a significantly elevated frequency of the low-activity Asn allele in the total sample of autistic cases relative to controls (P < 0.00001), and in both study populations (P < 0.001 and P < 0.025). We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism.


Subject(s)
Adenosine Deaminase/genetics , Autistic Disorder/genetics , Polymorphism, Genetic , Adolescent , Alleles , Amino Acid Substitution , Asparagine , Aspartic Acid , Autistic Disorder/enzymology , Child , Child, Preschool , Female , Genotype , Humans , Italy , Male , Reference Values , Risk Factors , White People
16.
Clin Chim Acta ; 302(1-2): 125-32, 2000 Dec.
Article in English | MEDLINE | ID: mdl-11074069

ABSTRACT

The activity of beta-hexosaminidase, determined with 4-methylumbelliferyl-beta-N-acetylglucopyranoside substrate, and of beta-D-mannosidase was significantly higher in the serum of patients with carbohydrate-deficient glycoprotein (CDG) syndrome type IA (phosphomannomutase deficiency) than in controls. No significant differences were observed in the activity of beta-hexosaminidase, determined using 4-methylumbelliferyl-beta-N-acetylglucopyranoside-6-sulphate as substrate, and the activity of alpha-D-mannosidase. Using DEAE-cellulose chromatography, a greater amount of hexosaminidase B than hexosaminidase A was detected in CDG serum. In CDG serum, hexosaminidase A was eluted in a more basic position in the salt gradient. An isoenzyme of alpha-D-mannosidase and beta-D-mannosidase was identified in control and CDG sera. alpha-D-Mannosidase isoenzyme was eluted in a slightly more basic position in CDG serum than in control serum, whereas beta-D-mannosidase isoenzyme was eluted in the same position.


Subject(s)
Congenital Disorders of Glycosylation/enzymology , Mannosidases/blood , beta-N-Acetylhexosaminidases/blood , Adolescent , Adult , Chromatography, DEAE-Cellulose , Female , Hexosaminidase A , Hexosaminidase B , Humans , Isoenzymes/blood , Male , alpha-Mannosidase , beta-Mannosidase
20.
Br J Haematol ; 108(4): 838-41, 2000 Mar.
Article in English | MEDLINE | ID: mdl-10792292

ABSTRACT

We report on a 63-year-old patient with Gaucher disease type I who developed severe bone involvement with destructive lesions and huge soft tissue extension in both humeri that appeared to evolve slowly. The clinical course and histopathological findings in our patient suggested a progressive extraosseous extension of the storage cells into the soft tissue, accompanied by a striking increase of fibrotic tissue and resulting in an impressive deformity. The extraordinary bone involvement in this patient expands our knowledge on the most severe skeletal complications of untreated Gaucher disease.


Subject(s)
Gaucher Disease/pathology , Humerus/pathology , Female , Gaucher Disease/diagnostic imaging , Humans , Humerus/diagnostic imaging , Middle Aged , Radiography , Time Factors
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