Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.

OBJECTIVE: To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child. METHODS: A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Weight gain during infancy and early childhood was calculated as change in weight standard deviation score (SDS), using the French growth reference values. An upward gain in weight ≥0.67 SDS during these periods was considered indicative of overweight and/or obesity. RESULTS: Ten cases of PHP type 1A were identified (mean age 41.1 months, range from 4 to 156 months). In children aged ≤2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%). In older children, brachydactyly was present in 60% of cases. Seizures occurred in older children (3 cases). Short stature was common at all ages. Subclinical hypothyroidism was present in 70%, increased parathormone (PTH) in 83%, and hyperphosphatemia in 50%. Only one case presented with hypocalcemia. Erythrocyte Gsα activity tested in seven children was reduced; GNAS1 gene testing was performed in 9 children. Maternal transmission was the most common (six patients). In three other cases, the mutations were de novo, c.585delGACT in exon 8 (case 2) and c.344C>TP115L in exon 5 (cases 6&7). CONCLUSION: Based on our results, PHP type 1A should be considered in toddlers presenting with round face, rapid weight gain, subcutaneous ossifications, and subclinical hypothyroidism. In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features.

Parental presence during cardiopulmonary resuscitation of children: the experience, opinions and moral positions of emergency teams in France.

OBJECTIVE: To evaluate the experience, opinions and moral positions of French emergency physicians (EP) who had taken a paediatric university course on parental presence during child cardiopulmonary resuscitation (CPR), and to compare it with the responses of nurses on their teams. METHODS: A questionnaire was sent to 550 EPs who had taken the course during the previous 6 years; the EPs were also asked to give a copy of the questionnaire to nurses on their staff. Data were collected on experience of parental presence during child CPR, opinions on the practice, arguments for and against parental presence, and the moral positions of respondents regarding their perception of life and the sharing of medical/parental power in the decision-making process. RESULTS: 343 responses were analysed, 47% from EPs (29% response rate) and 53% from nurses. 52% of respondents had experienced parental presence during child CPR, but it had been the physician's wish on only 6% of these occasions. Only 17% of respondents favoured parental presence, with EPs (27%) being favourable more often than nurses (12%). The reasons against parental presence were psychological trauma for the parents, risk of interference with medical management, and care team stress. Respondents not in favour of parental presence expressed this view more for medical reasons than for parent-related reasons. The physicians not in favour of parental presence espoused a moral position predicated on medical power. CONCLUSIONS: A majority of EPs and nurses were reluctant to have parents present during child CPR. Their attitude involved medical paternalism.