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.     

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.     

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.     

Autisme du nourrisson : quoi de neuf dans le diagnostic et l'accompagnement ?

The field of knowledge on autism has deeply changed within a decade. We know more about the different kinds of pervasive developmental disorders, on their incidence, on the clinical aspects of onset of autism, on the possibility of early detection, as soon as 18 months of age, on the frequency of neurological and genetic disorders which may be associated with autism, and on the necessity of an early intervention. New media, as video, are useful to enhance assessment and therapeutic follow-up. Research allow for a therapeutic follow-up that goes further than the splitting between educative and psychodynamic trends of thoughts. However, prognosis in autism is still a difficult issue, and therapeutic efficiency is still globally low. This paper is not a literature review on pervasive disorders in general or particularly in autism, but aims at highlighting some new aspects which may be of interest for both clinicians and researchers on these several issues, about children up to 3 years of age.