Kocher-Debré-Sémélaigne syndrome with pericardial effusion

Kocher-Debré-Sémélaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report an 11-year-old female child with hypothyroidism and limb muscle pseudohypertrophy with pericardial effusion. The patient presented with hypertrichosis only. She had dull facies and marked hypertrophy of both calves and cervical muscles. Pericardial effusion was confirmed on investigations. Muscle pseudohypertrophy was a striking feature, and hypothyroidism was confirmed on thyroid studies. Pericardial effusion is known in hypothyroidism but has been very rarely reported with KDSS.     

Abstracts/Résumés

BACKGROUND:

Very preterm infants are predisposed to postnatal infections and necrotizing enterocolitis (NEC) that are associated with poor outcome and increased risk of brain injury.

OBJECTIVES:

To assess brain metabolic development in infants exposed to neonatal infections and NEC using indices of neuronal integrity (N-acetyl aspartate [NAA]/choline), measured with magnetic resonance spectroscopy (MRS). Hypothesis: NEC with concurrent sepsis is associated with impaired brain development, as reflected by NAA/choline ratios.

DESIGN/METHODS:

A total of 213 preterm born neonates (gestational age 24 to 32 weeks) recruited from two hospitals underwent MRS in the first weeks of life (32 weeks) and term-equivalent age (41 weeks). Ratios of NAA to choline were calculated from the basal ganglia. Data were categorized into six groups: preterm controls with and without brain injury, clinical infection, culture positive infection, NEC diagnosis with and without sepsis. A generalized linear model was used to assess the change in NAA/choline from scan 1 to scan 2 across groups (divided by the difference between ages at scan), adjusted for gestational age at birth and site. Post-hoc between-group comparisons were Bonferroni corrected (P<0.05).

RESULTS:

The groups were composed of the following number of infants: 51 with brain injury, 31 without brain injury, 28 had clinical infection, 61 had sepsis, 17 had NEC without sepsis and 25 had NEC with sepsis. The change in NAA/choline from scan 1 to 2 was significantly different between groups (P=0.04). Post-hoc comparisons revealed the rate of NAA/choline change was significantly lower in infants with NEC and concurrent sepsis in comparison to controls without injury (P=0.01).

CONCLUSIONS:

Infants with NEC and additional sepsis are at high risk for adverse metabolic brain development. This work highlights the importance of the prevention of NEC and sepsis.

• Paediatr Child Health. 2014 Jun-Jul; 19(6): e35–e107.
»
• 2: Impact of Admission Temperature on Mortality and Major Morbidities in Very Preterm Infants

Paediatr Child Health. 2014 Jun-Jul; 19(6): e36.

2: Impact of Admission Temperature on Mortality and Major Morbidities in Very Preterm Infants

Y Lyu, PS Shah, XY Ye, B Piedboeuf, A Deshpandey, M Dunn, and SK LeeAuthor information Copyright and License information DisclaimerChild Health Development, Capital Institute of Pediatrics, Beijing, ChinaCopyright © 2014 Pulsus Group Inc. All rights reserved