Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

We present a case with a partial duplication 5p11-->5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed.

[Neonatal convulsions in health care. II. Prognostic factors]. / Convulsiones neonatales en un área de salud. II. Factores pronósticos.

OBJECTIVE: To determine whether neonatal convulsions make up a homogeneous pathological group when it comes to establishing indices of prognosis. DESIGN: Descriptive study of retrospective cohorts. SCOPE: Twenty five cases of neonatal convulsions out of the 12,427 new born babies in the province of Albacete in the period 1991-1993 and the follow-up of their development up to December 1994. MATERIAL AND METHODS: Univariant analysis (variable dependent evolution; variable independent: type of crisis identified, interictal clinical features, EEG pattern and cerebral Eco-CT/MR) and multivariant analysis using a maximal logistic regression model. RESULTS: I. Univariant analysis. Type of crisis: we found differences between the types of crises presented (clonic, focal tonic, myoclonic, subtile with apnea, with no obvious crisis) and the prognosis, but no significant result. Neurological findings between crises: the RN who showed no change in consciousness following the convulsion had a better prognosis than those with changes in the level of consciousness between crises. The difference was significant (P = 0.03). Post-critic EEG pattern. The RN with a normal or a focal EEG were grouped together as opposed to those who showed alterations which were multifocal, had changes in the basic rhythm, were paroxysmal or of low voltage; the first type of EEG indicated the best prognosis (OR = 12.0; IC 95%; 1.1-159.5; p = 0.2). Radiodiagnosis: the RN with no changes on Eco or CT-RM had better prognoses (p > 0.001) than those with pathological ones. None had pathological sequelae (OR = 0.0). II. Multivariant analysis. The final method only retained the variable Rx (Radiodiagnosis) which implied that the other variables lost significance when corrected for association with Rx (p < 0.001) OR = 0.0. DISCUSSION: Although the clinical and EEG findings are indicators of prognosis, they lose their significance when correction is made for the underlying cerebral damage. The cause of the convulsions and the associated underlying cerebral lesion is the most important factor in determining the final outcome.

[Neonatal convulsions in health care. I. Incidence, etiology and clinical aspects]. / Convulsiones neonatales en un área de salud. I. Incidencia, etiología y aspectos clínicos.

OBJECTIVE: To determine the incidence, etiology and course of neonatal convulsions in the Albacete Health District between 1991 and 1993. DESIGN: A descriptive study of retrospective cohorts. SCOPE: 12,427 new born babies in the province of Albacete. The Hospital General de Albacete looks after a population of 376,071 inhabitants, attends 82% of the births in this area and its Neonatology Department is the only one in the province. METHOD: Incidence: we found 25 new born babies (RN) with neonatal convulsions: absolute incidence (IA) in live RN0/00.; IA in live full-term RN (RNI) 1.4(0/00); IA in preterm RN (RNPT) 13.4(0/00) and in immature RN (with a gestational age of < 29 weeks) 27.8(0/00). ETIOLOGY: hypoxic-ischaemic encephalopathy 32%, malformations or cerebral dysgenesis 24%, intracranial hemorrhage 16%, with less frequency: infections, metabolic and pharmacological changes 8%, epileptogenic diagnosis 4%. COURSE: 10 of the RN (40%) died, 8 (32%) had sequelae, although in 3 cases these were transient, and 7 had developed normally (28%). Other relevant aspects are described: neurological findings between crises, type of crisis, EEG and neuroimaging techniques. DISCUSSION: We attribute the poor prognosis of our series, as compared to other published series, to an increase in the incidence of convulsions associated with a worse prognosis (RN with antepartum fetal distress, cerebral malformations and metabolic encephalopathies), and a decrease in acute intercurrent conditions; hypoglucemia, hipocalcemia and hypothermia, which do not leave sequelae after treatment. Also when methods of clinical inclusion/EEG are used, evaluating only the epileptic phenomena, convulsive crises with minimal clinical signs are observed.

Neonatal lupus erythematosus with multisystem organ involvement preceding cutaneous lesions.

Here we report a case of neonatal lupus erythematosus syndrome presenting with multisystem organ involvement, including anemia, thrombocytopenia, purpura, bloody diarrhea, enzymatic liver abnormalities, splenomegaly and pneumonitis. These findings preceded the cutaneous rash that was the clue for the diagnosis. The patient's mother had an undiagnosed subacute cutaneous lupus erythematosus. The various forms of onset of neonatal lupus erythematosus syndrome are emphasized.

Pericentric inversions of chromosome 4: report of a new family and review of the literature.

A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.