Report and review of described associations of Mayer‐Rokitansky‐Küster‐Hauser syndrome and Silver–Russell syndrome

Silver–Russell syndrome (SRS) and Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome are described in isolation. However, their co‐occurrence has only been rarely reported. Here, we present a case report of an adolescent with SRS who was diagnosed with MRKH during the evaluation of primary amenorrhoea. Multiplex ligation‐dependent probe amplification analysis showed a normal methylation pattern and normal dosage at 11p15.5. A PubMed search for all peer‐reviewed publications (original articles and reviews) using the key words Silver–Russell syndrome, Mayer‐Rokitansky‐Küster‐Hauser syndrome, genetics, hypomethylation and reproductive anomalies identified three cases of SRS with MRKH, two of which were associated with significant hypomethylation of the H19 imprinting control region of the 11p15.5 locus. This report highlights the association between SRS and MRKH. The absence of hypomethylation and normal dosage at 11p15.5 suggests these two rare entities share alternative aetiopathogenic mechanisms.     

Identité et spécificité du « pédantisme » dans le syndrome d’Asperger

The purpose of this work is to better understand pedantic speech in Asperger syndrome as a pervasive developmental disorder. Often mentioned, unlike echolalia in studies on typical autism, this symptom questions the possible specificity of Asperger syndrome. From a review of literature and clinical examples, we propose an interpretation of this speech style as unified and coherent as possible. This clinical feature includes an overly precise vocabulary or overly favourite topic (which can be explained by a more general sameness) in the context of a one-side interaction (which can be explained by a more general impairment of influence). We suggest that the tendency to speak in a pedantic manner may be specific despite a generic disorder shared with typical autism.     

Pediatrics in 21<Superscript>st</Superscript> Century and Beyond

Pediatrics is a dynamic discipline and there is awareness and hope for actualizing outstanding achievements in the field of child health in 21^st century and beyond. Improved lifestyle and quality of children’s health is likely to reduce the burden of adult diseases and enhance longevity because seeds of most adult diseases are sown in childhood. Identification and decoding of human genome is expected to revolutionize the practice of pediatrics. The day is not far off when a patient will walk into doctor’s chamber with an electronic or digital health history on a CD or palmtop and a decoded genomic constitution. There will be reduced burden of genetic diseases because of selective abortions of “defective” fetuses and replacement of “bad” genes with “good” ones by genetic engineering. Availability of totipotent stem cells and developments in transplant technology are likely to revolutionize the management of a variety of hematologic cancers and life-threatening genetic disorders. The possibility of producing flawless designer babies by advances in assisted reproductive technologies (ARTs) is likely to be mired by several ethical and legal issues.The availability of newer vaccines by recombinant technology for emerging infective and for non-infective lifestyle diseases is likely to improve survival and quality of life. There is going to be a greater focus on the “patient” having the disease rather than “disease” per se by practicing holistic pediatrics by effective utilization of alternative or complementary strategies for health care. Due to advances in technology, pediatrics may get further dehumanized. A true healer cannot simply rely on technology; there must be a spiritual bond between the patient and the physician by exploiting the concept of psycho-neuro-immunology and body-mind interactions. In the years to come, physicians are likely to play “god” but medicine can’t achieve immortality because anything born must die in accordance with nature’s recycling blueprint. The medical science is likely to improve longevity but our goal should be to improve the quality of life.     

Interpreting physical signs of child maltreatment: ‘grey cases’ and what is ‘reasonably possible’

There is a growing evidence-base for physical signs of child maltreatment. However, health professionals sometimes find themselves in situations that are not clear cut, particularly when there is one suspicious injury in an otherwise normal child in a family where there are no risk factors for maltreatment present. This paper highlights such situations and guides the clinician through uncertainty to a consideration of whether or not the explanation for an injury is reasonably possible. This will be done by discussing the location, configuration and patterns of injury arising from low level falls, stairway falls, climbing into the bathtub, pacifiers or bottles, and being bitten by another child; explanations often proffered for an injury.     

Neonatal cholestasis and glucose‐6‐P‐dehydrogenase deficiency

We report a Caucasian neonate with chronic non‐spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work‐up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato‐biliary disease. Pediatr Blood Cancer 2010;54:758–760. © 2010 Wiley‐Liss, Inc.