ABSTRACT
INTRODUCTION: Chromosome 22q11 deletion syndrome is a syndromic complex which includes several manifestations such as cardiac defects, immunodeficiency, cleft palate and facial dysmorphic features. It is also associated with developmental delay and other neuropsychiatric symptoms. Epilepsy is an uncommon manifestation. CASE REPORT: A 15 year old female patient with a history of developmental delay and learning difficulties. She began with generalized and partial complex epileptic seizures of unknown etiology in the absence of other known risk factors for seizures. Brain magnetic resonance imaging and electroencephalographic recording were normal. Neuropsychiatric history, phenotype with nasal voice and dysmorphic features justified the study of the 22q11 deletion that was diagnostic. CONCLUSIONS: 22q11 deletion is one of the most common microdeletion chromosomal syndromes. In recent years more atypical cases are being diagnosed due to a better knowledge of the syndrome and the availability of the fluorescence in situ hybridization test. These cases are conferring a wider phenotypical spectrum to the syndrome.Therefore, increasing awareness of the expression of this syndrome by different specialists is essential. Clinical features such as facial dysmorphism or nasal speech in atypical cases are important diagnostic clues.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22 , Phenotype , Abnormalities, Multiple/physiopathology , Adolescent , Epilepsy/genetics , Epilepsy/physiopathology , Female , Humans , SyndromeABSTRACT
Introducción. El síndrome de deleción 22q11 es un complejo sindrómicoque incluye muy diversas manifestaciones, entre las que destacanmalformaciones cardíacas, inmunodeficiencia, hipocalcemia,fisura palatina y dismorfia facial. Se suele asociar también a retrasoen el desarrollo y otros síntomas neuropsiquiátricos, pero es muyinfrecuente la presentación con epilepsia como manifestación predominante.Caso clínico. Paciente mujer de 15 años con antecedentes deretraso en el desarrollo y dificultades de aprendizaje con retraso escolarque comenzó con crisis epilépticas generalizadas y parciales complejassin etiología ni factores predisponentes conocidos. La resonanciamagnética craneal y el electroencefalograma de vigilia fueronnormales. Los antecedentes neuropsiquiátricos y el fenotipo con voznasal y rasgos dismórficos faciales leves llevaron a solicitar el estudiode la deleción 22q11, que fue diagnóstico.Conclusiones. La deleción 22q11 es uno de los síndromes cromosómicosmás frecuentes. En los últimos años, gracias su mejorconocimiento y a la disponibilidad de la técnica de hibridación insitu con fluorescencia, se están diagnosticando un mayor número decasos atípicos que están ampliando el espectro fenotípico. Es importanteel conocimiento de sus manifestaciones por diferentes especialistas,ya que en casos atípicos algunas manifestaciones como lavoz nasal o los rasgos dismórficos faciales pueden dar la clave diagnóstica (AU)
Introduction. Chromosome 22q11 deletion syndrome is asyndromic complex which includes several manifestations suchas cardiac defects, immunodeficiency, cleft palate and facialdysmorphic features. It is also associated with developmentaldelay and other neuropsychiatric symptoms. Epilepsy is anuncommon manifestation.Case report. A 15 year old female patient with a history ofdevelopmental delay and learning difficulties. She began withgeneralized and partial complex epileptic seizures of unknownetiology in the absence of other known risk factors for seizures.Brain magnetic resonance imaging and electroencephalographicrecording were normal. Neuropsychiatric history, phenotype withnasal voice and dysmorphic features justified the study of the22q11 deletion that was diagnostic.Conclusions. 22q11 deletion is one of the most commonmicrodeletion chromosomal syndromes. In recent years more atypicalcases are being diagnosed due to a better knowledge of thesyndrome and the availability of the fluorescence in situ hybridizationtest. These cases are conferring a wider phenotypical spectrumto the syndrome. Therefore, increasing awareness of theexpression of this syndrome by different specialists is essential.Clinical features such as facial dysmorphism or nasal speech inatypical cases are important diagnostic clues (AU)
Subject(s)
Humans , Female , Adolescent , Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22 , Phenotype , Abnormalities, Multiple/physiopathology , Epilepsy/physiopathology , Epilepsy/genetics , SyndromeABSTRACT
OBJECTIVE: The purpose of this report is to describe our series of patients with polymorphic epilepsy, an infrequent diagnosis which was previously called severe myoclonic epilepsy. PATIENTS AND METHODS: A retrospective descriptive study of 12 patients diagnosed with polymorphic epilepsy according to the criteria proposed by the International League Against Epilepsy (1989) was carried out. All patients were recruited from the Neuropediatric Unit at our hospital. Minimum follow-up was 18 months, with a maximum of 20 years. RESULTS: In our opinion, the syndrome's evolution has three clinical EEG phases. The febrile phase, the catastrophic phase and the residual phase. The main interest from a pediatric point of view is the absence of EEG anomalies during the febrile phase, in spite of the severity of the condition. This may lead to confusion of the actual syndrome with complicated febrile seizures, which usually have a better prognosis. Another misleading diagnosis could be post-immunization disorders. To our best knowledge, evolution towards the catastrophic phase cannot be deterred. Antiepileptic drugs, in mono- or poly-therapy, at least until the present, have not proven to be useful in this disorder.
Subject(s)
Epilepsies, Myoclonic/diagnosis , Adolescent , Adult , Child , Child, Preschool , Electroencephalography , Epilepsies, Myoclonic/complications , Epilepsies, Myoclonic/drug therapy , Female , Humans , Male , Retrospective StudiesABSTRACT
A family with hereditary neuralgic amyotrophy of the brachial plexus throughout three generations is described. Outstanding features are early onset occurring during childhood or adolescence, unlike the idiopatic sporadic form of the disease, and the association with a peculiar physiognomy that reminds one of the facial expression found in Modigliani's paintings. Clinical evolution is not always favorable since relapses and long-lasting sequelae are common. The disease is inherited through an autosomal dominant gene with high penetrance and the neuropathy is always associated with the phenotypic features. The possible relationship with other pathological entities of very different clinical expression, such as tomacular neuropathy, is discussed, as well as the distinguishing peculiarities between the inherited and the sporadic forms of brachial plexus neuropathy.
Subject(s)
Brachial Plexus Neuritis/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Brachial Plexus/physiopathology , Child , Female , Humans , Male , Pedigree , Phenotype , Recurrence , SyndromeABSTRACT
Celiac disease (CD) is a permanent gluten-sensitive enteropathy appearing in individuals genetcally predisposed. Its incidence varies according to the authors, but is situated about 1/1.500 alive newborn infants (ANI). Recently, a decreased in the incidence of the disease as well as a delay in the onset of symptoms have been reported in several countries. The incidence of the disease in Spain is unknown so we have studied it in our population. In the period 1976-1987, 117 patients were suspected to have CD in the different centers performing intestinal biopsies in Vizcaya. Diagnosis was confirmed in 87 cases, thus implying an incidence of 1/2.151 ANI. Age onset has been stable along the years, and most cases continue to be diagnosed during the first 2 years of life.
Subject(s)
Celiac Disease/epidemiology , Biopsy , Celiac Disease/genetics , Celiac Disease/pathology , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Intestinal Mucosa/pathology , Spain/epidemiologyABSTRACT
Celiac disease (CD) is one of the most malabsorption syndromes in Pediatrics, its diagnosis being based on peroral intestinal biopsy. During the period 1974-1988 we have studied 178 patients with the suspected diagnosis of CD: diagnosis was confirmed in 117 whereas 22 are still under study. Mean age of the patients was 22.5 +/- 22.7 months, diagnosis being made during the first year of life in 32.6% of cases. Most cases had a classic clinical onset, although over the last year symptoms seen to be less apparent. Several patients presented with atypical forms. Also, associated diseases are observed in several cases. CD is often presented nowadays with few or atypical symptoms of difficult diagnosis and in this context the use of immunologic markers may be specially helpful.
