Current Pediatric Research

Letter to Editor - Current Pediatric Research (2017) Volume 21, Issue 4

Rare Diseases

Achour Radhouane*

Emergency Department of Obstetrics and Gynaecology of Maternity and Neonatology Center, Faculty of Medicine, El-Manar University, Tunis, Tunisia.

*Corresponding Author:
Achour Radhouane
Emergency Department of Maternity and Neonatology
Center, Faculty of Medicine, El-Manar University,
Tunis, Tunisia.
Tel: 21698549398
E-mail: [email protected]

Accepted date: November 24, 2017

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Dear Editor,

By definition, rare diseases have a very low incidence. However, every clinical practitioner should be familiar with their approach.

So, to enrich the medical literature, some of these rare pathologies encountered in the professional experience can be cited [1-11].

Among ectopic pregnancies, spontaneous bilateral is the rarest form, with an estimated incidence of 1:725 to 1:1580 ectopic pregnancies [2].

Take home message: Always identify and closely examine both tubes at the time of surgery, even in the presence of significant adhesions.

A ruptured cornual ectopic pregnancy at 18th gestational week is a rare form of ectopic pregnancy. Interstitial pregnancies account for 2-4% of ectopic pregnancies. Of these, 20% may advance beyond 12 weeks of gestation and end in rupture [3].

Take home message: Always put in mind that the advanced gestational age does not exclude the diagnosis of ectopic pregnancy even in the absence of symptoms.

Heterotopic pregnancy was considered to be a rare pathology many years ago [4]. However, its incidence is increasing due to the fact that assisted reproduction techniques (ART) have become much more common. In literature, the prevalence of heterotopic pregnancies in a spontaneous cycle is described 1:30000 compared to 1:100-1:500 in ART.

Take home message: Always pay attention to what is happening around the uterus.

Take into consideration that an intrauterine pregnancy may occur concurrently with an extra-uterine one.

Placenta accreta (PA) is a life-threatening obstetrical emergency. Its incidence has risen in parallel with cesarean deliveries. On reviewing medical literatures over the last 20 years, the reported cases of Placenta accreta (6-12 weeks) during the first trimester were mostly discovered after the occurrence of severe bleeding. We have reported the first case of placenta accreta detected at 9th gestational week by ultrasound [6].

Take home message: Early diagnosis of placenta accreta in the first trimester by ultrasound may be possible.

The total prevalence of partial and complete agenesis of the corpus callosum (ACC) is estimated at 0.02-0.5%. We have reported a case of an isolated fetal ACC [8].

Take home message: The prognosis in isolated agenesis of the corpus callosum remains uncertain, but the neurodevelopment outcome in such cases was reported favorable in about 65-75% of cases.

These previously-mentioned cases are just some examples of what we rank as rare entities, which may be underestimated by many clinicians.

Plenty of Questions may be posed

Firstly, does the word "rare" equal the least important and as a result should we show the least interest?

Secondly, would the low prevalence of those rare diseases be due to the lack of means of clinical and complementary investigations? Besides, with the development of imaging techniques and biochemical examination, will it be more feasible to diagnose those diseases?

Also, is medical development (such as in the case heterotopic pregnancies after ART) related to the rise of the incidence of these diseases?

Moreover, is medical practice (such as caesarean section and placenta accreta) related to the increase of the incidence of these diseases?

We should be more prudent and pay more attention to these pathologies that are called "rare" nowadays, because they are becoming a real issue of public health and their approach may be of crucial importance in future.