ABSTRACT
Moderate therapeutic hypothermia (MTH) significantly reduces the risk of death or long-term neurodevelopmental disability. Subcutaneous fat necrosis (SCFN) is a rare particular form of panniculitis in full-term newborns. It can occur in preterm infants with predisposing risk factors (birth asphyxia, gestational diabetes, etc.). A few cases of SCFN after MTH have been described. We report two original cases of SCFN after MTH in newborns of African origin. Ethnic origin has not yet been reported in the literature as a risk factor. We describe here the possibility of a new risk factor of SCFN. Dermatologists and pediatricians should be aware of this complication and recognize it early because of the risk of hypercalcemia, even late after skin remission.
Subject(s)
Fat Necrosis/etiology , Hypothermia, Induced/adverse effects , Subcutaneous Fat/pathology , Africa/ethnology , Female , Humans , Hypothermia, Induced/methods , Infant, Newborn , MaleABSTRACT
Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy.
Subject(s)
Antigens, CD/genetics , Cardiomyopathy, Hypertrophic/genetics , DNA Mutational Analysis , Donohue Syndrome/diagnosis , Donohue Syndrome/genetics , Heart Failure/genetics , Homozygote , Receptor, Insulin/genetics , Blood Glucose/metabolism , Cardiomyopathy, Hypertrophic/diagnosis , Cardiomyopathy, Hypertrophic/pathology , Chromosomes, Human, Pair 19/genetics , Consanguinity , Donohue Syndrome/pathology , Echocardiography , Exons/genetics , Fatal Outcome , Female , Follow-Up Studies , Genetic Carrier Screening , Heart Failure/diagnosis , Heart Failure/pathology , Humans , Infant, Newborn , Introns/genetics , Shock, Cardiogenic/pathologyABSTRACT
The authors report a case of caecal volvulus associated with Marden-Walker syndrome in a 4-year old girl. They point out the diagnostic difficulties of this devastating disease specially in debilitated children.
Subject(s)
Abnormalities, Multiple , Blepharophimosis , Cecal Diseases , Intellectual Disability , Intestinal Volvulus , Cecal Diseases/diagnosis , Cecal Diseases/surgery , Child, Preschool , Female , Humans , Intestinal Volvulus/diagnosis , Intestinal Volvulus/surgery , SyndromeABSTRACT
A case of an unilocular renal hydatid cyst in a 10-year-old French girl without any notion of travelling in a foreign country is reported. In children affected by renal echinococcosis, clinical symptoms and physical examination are nonspecific. Among the diagnostic procedures, the role of echography in the assessment of the diagnosis is pointed out.
