Situs Inversus Totalis in Association With Duodenal Atresia

Alshaikh, Murtadha A.; Ghadeer, Hussain A Al; Alabad, Hamed; Almohsin, Madinah; Ali, Roqaia A. Al

doi:10.7759/cureus.17764

Cited by 2 publications

(4 citation statements)

References 17 publications

(20 reference statements)

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“…Situs inversus totalis (SIT) is a rare autosomal recessive congenital anomaly in which the abdominal organs are fully transposed. 4 …”

Section: Discussionmentioning

confidence: 99%

“…Situs inversus totalis (SIT) is a rare autosomal recessive congenital anomaly in which the abdominal organs are fully transposed. 4 Therefore, there is a mirror-image transposition of all abdominal organs. The first known case in humans was reported by Fabricius.…”

Section: Discussionmentioning

confidence: 99%

“…The first known case in humans was reported by Fabricius. 4 Situs inversus is estimated to occur in 1 in every 8000 to 25,000 live births. The condition is equally distributed among males and females, while boys predominate when there are concurrent splenic anomalies, similarly to the present case.…”

Section: Discussionmentioning

confidence: 99%

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Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report

Ali¹,

Biyikli²,

Abdi³

et al. 2022

IMCRJ

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The infantile intestinal obstruction associated with situs inversus totalis and polysplenia is extremely rare, with only a few cases reported in the literature. Furthermore, the management of this association is complicated. We report a case of a 2-month-old boy with intestinal obstruction due to malrotation and volvulus with thin translucent omentum sac encasing the small intestine associated with situs inversus totalis, polysplenia, and pulmonary hypertension. To the best of our knowledge, this is the first case of situs inversus totalis with polysplenia, pulmonary hypertension, and intestinal obstruction due to malrotation and volvulus with thin translucent omentum sac encasing the small intestine.

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“…Situs inversus totalis (SIT) is a rare autosomal recessive congenital anomaly in which the abdominal organs are fully transposed. 4 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report

Ali¹,

Biyikli²,

Abdi³

et al. 2022

IMCRJ

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“…PCD can be associated with other diseases such as central giant cell granuloma, extrahepatic biliary atresia, or duodenal atresia [ 2 , 12 , 19 ]. However, our patient had PCD with jejunal atresia.…”

Section: Discussionmentioning

confidence: 99%

A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child

Isa¹,

Alkharsi²,

Busehail³

et al. 2022

Cureus

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Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder. It is caused by a defect in the action of the cilia lining multiple organs of the body, including the lungs, the sinuses, hepatobiliary and reproductive organs. In general, the estimated prevalence of this condition is one in 15,000-20,000 individuals. It is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus, which occurs in 50% of the cases. It can be associated with other diseases too. Genetic studies can aid in confirming the diagnosis of this condition. A high degree of suspicion about PCD among pediatricians, neonatologists, otorhinolaryngologists, and pulmonologists is essential to make early referrals of patients before they develop irreversible lung damage. Hence, early diagnosis and appropriate treatment are very important. Multicenter collaborations might improve the quality of treatment and patient outcomes. Here, we discuss a case of PCD with a unique association with type IIIb jejunal atresia, and developmental delay secondary to vitamin B12 deficiency. Moreover, the patient was found to have a novel DNAH9 gene mutation in a compound heterozygous state. This is the first case of this rare disease to be reported from Bahrain. This case report is also associated with an extensive literature review.

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Situs Inversus Totalis in Association With Duodenal Atresia

Cited by 2 publications

References 17 publications

Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report

Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report

A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child

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