ABSTRACT
We report a case of neonatal Eating Epilepsy. The baby was admitted to the Neonatal Intensive Care Unit of Chieti after delivery, with respiratory distress syndrome. In the first day of life the baby had an episode of arterial desaturation and cyanosis with EEG alterations. After laboratory and instrumental investigations we found a correlation between EEG abnormalities and GER. So we administered a combination of anticonvulsive and antacid therapy and, considering the total improvement of EEG, we diagnosed a neonatal form of "eating epilepsy".
Subject(s)
Eating/physiology , Electroencephalography , Epilepsy, Reflex/etiology , Antacids/therapeutic use , Epilepsy, Reflex/drug therapy , Epilepsy, Reflex/physiopathology , Gastroesophageal Reflux/complications , Humans , Infant, Newborn , MaleABSTRACT
We report the case of a child with Smith-Lemli-Opitz Syndrome. The pregnancy was complicated by prenatal growth retardation. The baby was admitted to the Neonatal Intensive Care Unit of Chieti when she was five months old. She showed postnatal growth retardation, trouble sucking and swallowing, microcephaly and multiple major and minor malformations, including characteristic facial features and 2-3 syndactyly of the toes. We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.
Subject(s)
Cholesterol/biosynthesis , Cholesterol/blood , Smith-Lemli-Opitz Syndrome/pathology , Adult , Cholesterol/genetics , Cholesterol, Dietary/therapeutic use , Face/abnormalities , Failure to Thrive/complications , Female , Fetal Growth Retardation/pathology , Growth Disorders/complications , Humans , Infant, Newborn , Pregnancy , Smith-Lemli-Opitz Syndrome/diet therapy , Smith-Lemli-Opitz Syndrome/metabolism , Syndactyly/pathologyABSTRACT
The diffuse excessive high-signal intensity (DEHSI) findings in the T2 weighted scans of white matter (WM), besides the corresponding low signal in the T1 weighted images, are usually more evident around the periventricular regions. It is not clear whether the DEHSI should be considered as a diffuse WM injury rather than a sign of delayed maturation of the WM. Eighty nine preterm infants at the full-term equivalent age (FEA) were studied using conventional Magnetic Resonance (MR) imaging of the brain. Based on the MR findings, the infants studied were divided into three groups: the control group presenting normal WM, the DEHSI group and the group with other WM lesions. Ten newborns were not included in the statistical analysis because they presented evidence of precedent germinal matrix hemorrhage (GMH-IVH) which cannot be considered as WM lesions. Seventy nine infants were enrolled in a program of neuropsychobehavioural study follow-up until 24 months of age. Each infant was evaluated for those variables which mostly affect the occurrence of neuropsychomotor disability. In the DEHSI infant group, significantly lower mean pH and mean base excess (BE) values were found in comparison to controls, while the mean birth weight (BW) was significantly higher. No significant difference was observed between the mean 1st minute Apgar Score, mean birth gestational age (GA) and assisted ventilation mean duration of controls and DEHSI groups. Finally, no significant difference between the parameters studied was found by comparing the WM lesion infants group to the DEHSI infants one. Our observations, together with follow-up studies, even up to school age, confirm that DEHSI has a clinical significance and cannot be considered as a simple indicator of delayed WM maturation.
Subject(s)
Brain/pathology , Child Development/physiology , Infant, Premature/growth & development , Intellectual Disability/diagnosis , Magnetic Resonance Imaging/methods , Psychomotor Disorders/diagnosis , Brain/growth & development , Child, Preschool , Female , Follow-Up Studies , Humans , Infant, Newborn , Intellectual Disability/psychology , Male , Neuropsychological Tests , Predictive Value of Tests , Psychomotor Disorders/psychologyABSTRACT
We report a case of a newborn with Glutaric aciduria type II. Pregnancy was complicated by polyhidramnios and fetal bradycardia. Cardiomegaly was detected by fetal echocardiography. The baby was admitted to the Neonatal Intensive Care Unit of Chieti with respiratory distress syndrome immediately after delivery. He showed head and neck edema, micrognathia, paucity of movement, pronounced hypotonia, bilateral cryptorchidism, micropenis, small hands, skin hyperelasticity and joint hypermobility. Serum and urine analysis showed a fatty acid beta-oxidation disorder. He died at 7 days of age for cardiac arrest and autopsy showed marked hepatic and cardiac vacuolisation, lipid storage myopathy and glial cells vacuolisation. Based upon these findings, we speculate that this infant may be suffering from inborn metabolic disease.
