Cognitive function and neurophysiological evaluation in early-treated hypothyroid children.

In this study, we assessed cognitive function and neurophysiological development in congenitally hypothyroid (CH) children. We performed a cross-sectional study at the outpatient Pediatric Clinic and Department of Neurophysiology at San Raffaele Hospital, Milan. The study enrolled 25 CH patients (6.00-10.83 years of age) detected by neonatal screening, and 34 healthy control children (4-11 years of age). Patients and controls had comparable scores at neuropsychological tests (WISC-R), and at auditory P300 tests. In contrast, we found significantly longer LLSEP latencies in CH patients (p < 0.03). CH patients treated 30 days after birth showed lower scores at neuropsychological tests, but not at neurophysiological tests, compared to patients who started the replacement therapy earlier. Patients with more severe fetal hypothyroidism (T4 levels at diagnosis < or = 2 micrograms/dl) had lower neuropsychological scores, and similar neurophysiological results, compared with patients with moderate fetal hypothyroidism. The severity of fetal hypothyroidism and early treatment influence the mental outcome of CH patients. Neurophysiological results show that central nervous system damage occurs in some patients despite early treatment.

Assessment of skeletal maturation in infants: comparison between two methods in hypothyroid patients.

BACKGROUND: Conventional skeletal radiography is the standard technique for assessing skeletal age. However, radiography cannot demonstrate cartilage and is therefore of lesser value in infancy when the ossification centres are composed mainly of cartilage. By comparison, US clearly demonstrates cartilage and bone. OBJECTIVE: In the present study, we compared radiography and sonography for the assessment of skeletal age in neonates and infants. MATERIALS AND METHODS: Because delayed skeletal maturation is a feature of congenital hypothyroidism and assessment of skeletal age is routinely performed in our centre, we studied 55 hypothyroid infants (aged 7-66 days). AP radiographs and sonograms, acquired using high-frequency scanners, were obtained and dimensions of the distal femoral epiphyseal ossification centre (DFE) were compared. RESULTS: Measurements of DFE by the two methods showed excellent correlation (R = 0.94, P = 0.0001). Radiographs did not demonstrate a DFE in 11 infants, and US did not show it in 6. In no infant did radiography demonstrate DFE not seen by US. Moreover, DFE dimensions on US were larger than those measured on radiographs. Infants with absent thyroid gland had a DFE significantly smaller than those infants with ectopic or normally placed glands (P < 0.001), on both radiographs and sonograms. CONCLUSION: Our data suggest that sonography is a valid alternative to standard radiography for the assessment of skeletal age in infants.

Brain magnetic resonance imaging in congenital hypothyroid infants at diagnosis.

The aim of our study was to investigate the central nervous system (CNS) morphology and myelination with magnetic resonance imaging (MRI) in congenital hypothyroid (CH) infants detected by neonatal screening before replacement therapy. We studied 11 CH infants, 9 girls and 2 boys, mean age 22 days, 3 with aplasia, 5 with ectopia, 2 with hypoplasia of the thyroid gland, 1 with unknown diagnosis. As normal controls 22 term newborns (38 to 41 weeks of gestational age) were studied. MRI studies were performed with a 1.5-T magnet, extremity coil, T1-weighted and heavily T2-sequences axial sections were obtained. No sedation was needed for the MRI studies. MRI brain examination was normal in all patients compared with controls. In particular, no differences in the myelination patterns of the brain were observed between normal subjects and patients with hypothyroidism. Our study shows no morphological brain abnormalities in CH infants detected by neonatal screening before replacement therapy. Perinatal hypothyroidism seems to have no effect on CNS structures.

Congenital hypothyroidism: auxological retrospective study during the first six years of age.

We examined length, height and weight from birth to six years of age and head circumference during the first two years in 89 children with congenital hypothyroidism (CH). The patients were divided in two groups: children diagnosed by clinical criteria during the first year of life (group A) and children detected by neonatal screening (group B). Group A showed a complete catch up growth for height and weight 10 months after the beginning of the replacement therapy; to the contrary, group B did not show any difference for height and weight compared to normal standards. Head circumference, evaluated only in group B, was significantly higher in comparison with normal standards. When etiology of CH was taken into consideration, children with athyreosis showed a significantly lower length at birth and at three months of age and their growths curves normalized after institution of replacement therapy. In conclusion our data suggest a direct relationship between severity and duration of hormone deficiency and growth retardation and confirm that replacement therapy started within the first year of live in CH patients clinically diagnosed allows a catch up growth.

Neurophysiologic studies and cognitive function in congenital hypothyroid children.

Minor neurologic and intellectual impairments have been described in some congenital hypothyroid (CH) children in spite of early detection by neonatal screening. The aim of our study was to assess cognitive functions as well as neurophysiologic parameters in hypothyroid children and to compare children detected by neonatal screening (group A) versus hypothyroid patients clinically diagnosed before the beginning of the screening program (group B). Group A consisted of 15 children (13 girls, mean age at the beginning of treatment 33 d). Group B consisted of 11 patients (7 girls, mean age at the start of treatment 10.1 mo). Twenty age-matched healthy children were studied as a control group for neurophysiologic tests. Neurophysiologic tests (Auditory P 300, long latency somatosensory evoked potentials (LL-SEP) were performed along with IQ evaluation. Abnormalities of neurophysiologic tests were detected in 82% of clinically diagnosed hypothyroid children. Surprisingly, 47% of the children detected by neonatal screening, having normal mental development index, showed at least one abnormal neurophysiologic test. LL-SEP latencies were found significantly increased in both groups of CH patients compared with controls. Our data are suggestive for a prenatal or perinatal CNS damage in some children with congenital hypothyroidism, despite early treatment.

Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children.

Impairment of calcium metabolism and low bone density have been found in hypothyroid adults. We investigated the effect of thyroid replacement therapy on calcium metabolism and bone mineralization in congenital hypothyroid (CH) infants and children. One hundred and 16 Caucasian CH consecutive patients were studied and were grouped according to their age: 23 patients at diagnosis, 20 at 3 mo, 24 at 6 mo, 25 at 12 mo and 24 at 36 mo. Thyroid replacement therapy was started at an initial dose of 6-8 micrograms/kg/day of L-thyroxine, and then decreased progressively. Calcium, phosphorus, magnesium, alkaline phosphatase (AP), parathyroid hormone (PTH) and osteocalcin (BGP) were measured as calcium metabolism indices. Bone mineral content (BMC) was measured at the mid-portion of the right radius AP, PTH and BGP concentrations were significantly higher in subjects at 3 mo of age (p < 0.05). This rise coincided with the end of the period of maximum dosage of L-thyroxine. Mild asymptomatic hypercalcemia was observed in 20 patients. All the other indices did not differ between age groups. BMC values and BMC annual increment were not different from those calculated for age-matched controls. We found that L-thyroxine replacement therapy does not alter bone mineralization of CH infants and children. Only a transitory increase of osteoblastic function was observed after the first few months of therapy.

[Thyroid autoimmunity and congenital hypothyroidism]. / Autoimmunità tiroidea e ipotiroidismo congenito.

The involvement of thyroid autoimmunity in the pathogenesis of sporadic congenital hypothyroidism is still incompletely understood. While antithyroglobulin and anti-thyroperoxidase antibodies are harmless, the transplacental passage of TSH receptor antibodies with blocking activity from a mother with autoimmune thyroiditis to the fetus is responsible of transient neonatal hypothyroidism in the baby. This is however a rare condition. Thyroid growth blocking antibodies have been described in healthy mothers of children with permanent congenital hypothyroidism due to thyroid dysgenesis, but this observation was not confirmed in other studies including our own. Antibodies producing cell mediated cytotoxicity (ADCC), either transferred from the mother or due to an autoimmune thyroiditis developing in utero, might be involved in the pathogenesis of permanent congenital hypothyroidism. However, this hypothesis requires confirmation in more extensive studies.

[Hypothyroidism, transitory or congenital. Reflections on a clinical case]. / Ipotiroidismo transitorio o primitivo. Considerazioni su un caso clinico.

We report one case of congenital hypothyroidism with thyroid agenesis wrongly considered as a transient form of hypothyroidism. The patient came to our attention at 9 months of age, showing an important delay in neuromotor development. Transient hypothyroidism is a situation of brief hormonal deficit with spontaneous resolution in the first weeks of life. We consider it very important to differentiate this transient condition from a permanent form of thyroid dysgenesis.

[Neonatal common bile duct calculi. Description of a case]. / Calcolosi del coledoco neonatale. Descrizione di un caso.

Cholelithiasis as a cause of jaundice in the neonatal period is rare. We are going to describe a case of cholestasis with cholangitis due to calculus of choledochus. None of the causes favouring cholelithiasis described in medical studies proved to be present. The diagnosis was made through an ultrasonographic check of the upper abdomen. The case resolved spontaneously. Our case suggests a cautious attitude and careful clinical and echographic monitoring.

[Acute propafenone poisoning. Description of a case]. / Intossicazione acuta da propafenone. Descrizione di un caso.

The paper reports a case of a 16-year-old girl who was admitted to hospital in a state of shock having attempted to commit suicide by taking ten 300 mg pills of propafenone (Rytmonorm). The patient showed severe atrio-ventricular and intraventricular conduction disorders; an infusion of bicarbonate if soda and dopamine was immediately given and a temporary heart electro-stimulator was inserted. Conduction disorders gradually disappeared over the course of 36 hours and the patient was discharged with sinusal rhythm and good hemodynamic balance on the third day after admittance.

Percutaneous laser-assisted balloon angioplasty of lower-extremity arterial disease in a free-standing laboratory: clinical experience with 100 cases.

From September 1987 through May 1988, 86 patients (62 men and 24 women) underwent percutaneous laser-assisted balloon angioplasty, and 2 patients (1 man and 1 woman) underwent laser-assisted balloon angioplasty via cutdowns, in our free-standing catheterization laboratory. The patients' ages ranged from 36 to 81 years. One hundred limbs were treated; each had at least 1 total occlusion, and many had multiple significant occlusions (greater than 50%). Vascular access was attained via the common femoral artery in 62 limbs, via the popliteal artery in 34 limbs, and via a posterior tibial artery cutdown in 4 limbs. In all, 232 lesions were treated either by percutaneous laser-assisted balloon angioplasty (172 lesions) or by balloon angioplasty alone (60 lesions). Technical success was defined as "recanalization and dilation of the occluded arterial segment, resulting in a recognizable improvement in pulse that persisted until hospital discharge." The technical success/attempt ratios for the 172 laser-assisted treatments were as follows: iliac artery, 11/17 (64.7%); common femoral artery, 8/9 (88.9%); superficial femoral artery, 62/80 (77.5%); popliteal artery, 25/30 (83.3%); peroneal artery, 14/16 (87.5%); anterior tibial artery, 6/7 (85.7%); and posterior tibial artery, 9/13 (69.2%). Technical failure occurred in 25 limbs. Failure was not related to sex, age, approach artery, or diabetes, but it was related to the indication of impending limb loss (p < 0.01), previous vascular surgery (p < 0.01), amputation (p < 0.01), and lesion length of 20 cm or greater. Clinical success was defined as "clinical improvement in symptoms, with persistence of an improved pulse at follow-up." Recurrence was observed in 10 limbs. Recurrence was not related to sex, age, approach artery, diabetes, or lesion length, but it was related to the indication of impending limb loss (p < 0.05); to the fact that the patient was a cigarette smoker at the time of the procedure (p < 0.02); and (inversely) to the number of tibial vessels that remained patent post-intervention. Five patients required emergency surgery after laser-assisted angioplasty, but no limb amputation has been necessary. Minor complications included perforation (16 cases), hematoma formation (6 cases), dissection (3 cases), hemorrhage (1 case), hives (1 case), and fracture of the laser probe (1 case). We conclude that percutaneous laser-assisted balloon angioplasty can be safely accomplished in a free-standing laboratory and that the procedure is reasonably successful in patients with totally occluded lower-extremity arteries.