Biomedical subjects
Publications and source records attributed to D Laloum.
We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.
UNLABELLED: This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. CONCLUSION: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis. This is the first reported occurrence of bowel obstruction in this disease and the resemblance to a congenital infection in the neonatal period must be emphasized.
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Genital mycoplasmas have been implicated in different neonatal diseases as pneumonia, sepsis and meningitis. This prospective study was conducted to specify their role in these diseases. POPULATION AND METHODS--A pharyngeal or tracheal swab specimen for mycoplasmas culture was obtained from 100 infants admitted consecutively to the Neonatal Care Unit (NCU) during the first 24 hours of life. Mycoplasma culture of blood and cerebrospinal fluid was also performed. Pharyngeal and/or tracheal specimens were collected again on days 5, 15 and 28 if the child was still in the NCU. Mycoplasma hominis (Mh) and Ureaplasma urealyticum (Uu) were identified by culture in a modified Hayflick's medium. RESULTS--Three-hundred and ten pharyngeal or tracheal swabs were obtained (100 on day 0, 89 on day 5, 72 on day 15 and 49 on day 28). Twenty-one infants had one or more positive swabs in the first five days of life (20 on day 0 and one on day 5); those forming the "Myco+" group and the others forming the "Myco-" group. Uu was isolated alone from 20 infants, associated with Mh from one. Both groups were similar for gestational age, birth weight, maternal fever during labor, prolonged rupture of the fetal membranes or chorioamnionitis and for the incidence of acute respiratory distress. There was a statistically significant difference for the route of delivery (chi 2 < 0.02). One blood culture (from 92 performed) was positive for Uu and another positive for Uu and Mh. Both children were cured without any specific mycoplasmacidal therapy. Three children had probable Uu infection and were also cured without specific therapy. CONCLUSIONS--A pharyngeal colonization with genital mycoplasmas is common in the first days of life (21%) but our data do not allow us to conclude that they are accountable for newborn infections.
Ureaplasma urealyticum and Mycoplasma hominis were recovered from nasopharyngeal aspirates from 25% of 63 infants admitted to a neonatal unit; this proportion is significantly higher than that seen in a control population of maternity ward babies (0%). Birth by cesarean section was associated with a reduced risk of recovery of mycoplasmas. No specific diseases were significantly associated with recovery of mycoplasmas; furthermore, no obstetrical factors were associated with recovery of mycoplasmas from the neonates and no association was found between mycoplasma infection and respiratory distress. However, fetal distress, probably of multifactorial origin, was found in 44% of neonates with positive cultures for Ureaplasma urealyticum; this proportion was significantly elevated as compared with the subgroup of infants negative for U. urealyticum, suggesting that fetal distress may increase the infectivity of this opportunistic organism.
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Cerebral arteriovenous malformations with neonatal manifestations are infrequent and virtually always fatal. Heart failure with an intracranial bruit is the most common presentation. Exceptionally, the aneurysm is a manifestation of Rendu-Osler-Weber syndrome which is inherited on an autosomal dominant basis. Development of cerebral arteriovenous malformations occurs very early as demonstrated by the discovery of two aneurysms with major repercussions on the cerebral parenchyma in a female with severe prematurity. Pregnant women with suspected Rendu-Osler-Weber syndrome should undergo ultrasound studies targeted at identifying untreatable cerebral lesions antenatally.
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Early myoclonic encephalopathy is a rare neurologic disease of unknown etiology whose course is always quickly unfavorable. Clinical features include lack of mental development and myoclonic jerks which appear during the neonatal period. There are no biological abnormalities but EEG shows a pattern of suppression-burst. In the spectrum of neonatal epileptic encephalopathic syndromes, it is important to distinguish this syndrome from non-ketotic hyperglycinemia and Ohtahara' syndrome. Two new familial cases authors to emphasize on the difficulty of nosological delineation of these syndromes. However it is necessary to delimit this disease for a genetic purpose.
A case of Moebius syndrome in a premature baby is reported. After a phase of neonatal severe respiratory distress syndrome, the baby presented with a persistent facial paralysis, already present at birth and inability to close the eyes (also present in her father), without ophthalmoplegia. An unusual pharyngeal and laryngeal paralysis was also present: it led to tracheal intubation then tracheostomy and gastrostomy. CT scan at 15 months of age showed hypoplasia of brain stem. The difficulties of managing bulbar paralysis in such a premature baby are emphasized.
The authors report 32 cases of neonatal hemorrhagic colitis observed during a 19-mth period in the neonatal unit of the University Medical Center of Caen. Neonatal hemorrhagic colitis is characterized by rectal bleeding alone occurring mostly in premature infants. There are no accompanying clinical, biological or radiological signs of necrotizing enterocolitis. The evolution is always benign without any particular therapy. Prematurity and cesarean section appear to be the most important etiological factors. The pathogenesis is probably multifactorial. The differential diagnosis with necrotizing enterocolitis is difficult in the beginning.
A case of neonatal nemaline myopathy without respiratory distress is reported in a neonate. Its relatively benign course allowed survival without major complications. The discovery of a "central core disease" myopathy in her asymptomatic father confirms the relation between both entities.
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The symptoms of acute poisoning after accidental administration of ten times the usually prescribed dosage of caffeine in a premature infant included the following neurological signs: incessant tremors, hypertonia, continuous opisthotonos posture, whining and crying and digestive disturbances. The very high serum caffeine levels, 160 mg/l, determined 66 hours after the first administration was confirmed by the very high cerebrospinal fluid caffeine concentration 115 mg/l. Two exchange transfusions performed at an interval of 16 hours produced a large decrease in serum caffeine levels of approximately 40 mg/l each time, and a similar decrease in the cerebrospinal fluid concentration. The clinical status of the infant improved very rapidly and the child's psychomotor development was normal at 3 months of age.
We report an infant of 35 weeks' gestation who developed severe respiratory distress and pneumonitis due to perinatal mumps virus infection.
On the occasion of a case of Di George syndrome, complicated by a post-transfusion lethal graft versus host reaction, the authors review its main clinical and biologic criteria. This case also shows that immune deficiencies should be diagnosed early in order to adopt preventive measures before transferring the patient in a specialized unit, where immunorestitution will be discussed.
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Persiting pulmonary arterial hypertension, whether secondary to known lung disease or apparently idiopathic, may induce refractory hypoxaemia in the newborn. Tolazoline, pulmonary vasodilator of choice here, was used to treat this syndrome in 13 newborns. Therapeutic indications, precautions and possible side-effects are discussed.