Ciliopathies, or hereditary defects of primary (nonmotile) cilia, cause a wide range of overlapping syndromes that include fibrocystic diseases of the kidney and liver as well as disparate abnormalities of other organ systems.

From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation

Human cilia were once thought merely to be important in respiratory mucociliary clearance, with primary ciliary dyskinesia (PCD) the sole manifestation of ciliary dysfunction. There are now known to be three types of cilia: primary, nodal and motile. Cilia are complex, likely involving more than 1000 gene products; in this review, recent advances in PCD genetics, and the potential relationships with genes causing other ciliopathies, are discussed. PCD is the most important respiratory disease, characterized by upper and lower airway infection and inflammation and disorders of laterality. Ciliary gene mutations are now known to cause single organ disease, as well as complex syndromes. The focus of the review is primarily PCD, in the context of the expanding ciliopathy spectrum. The authors consider the clinical situations in which ciliary disease should be considered, and the implications for specialist respiratory practice.

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy

We report a rare case of bilateral congenital lobar emphysema in a 2-month-old male infant who presented with severe respiratory distress leading to respiratory failure. Plain chest X-ray and later high-resolution CT scan of the chest revealed that both the right middle and the left upper lobes were emphysematous. Surgical excision of the affected lobes has been done successfully in two sequential operations of right middle lobectomy followed by left upper lobectomy which resulted in significant improvement of respiratory status. In this report, the presentation, diagnosis, and surgical management of this rare condition are discussed.

Bilateral congenital lobar emphysema: A rare cause for respiratory distress in infancy.

Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction. Management focuses on stabilization and support of respiratory function. Treatment may be palliative in nature or corrective. In recent years, the advance in surgical treatment of the thoracic hypoplasia in JS offers hope to those families with a child suffering from the syndrome. Even with increased research into treatment of this disorder, prognosis is usually poor. Comorbidities associated with JS lead to serious organ dysfunction in later years. Families who have a child with JS need genetic counseling and education focusing on the seriousness of the disorder, the risks and benefits of treatment, and the lifelong needs of those with JS.

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

We report the association and surgical management of gastrointestinal dysmotility and malrotation with Jeune asphyxiating thoracic dystrophy (JATD), an autosomal recessive condition that often results in respiratory failure due to a small rib cage. A 4-month-old male with JATD presented with vomiting and aspiration pneumonitis compounding already severe respiratory morbidity. A contrast study revealed esophageal and gastric dysmotility with associated malrotation. This was treated surgically with good results. Some cases of JATD are caused by missense mutations in the gene IFT80, which encodes a protein implicated in the process of intraflagellar transport of primary cilia. We speculate that these abdominal complications might also be part of the extending spectrum of ciliopathy.

Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation.

Chapter 17 – Congenital Lung Disease

21 – Congenital Lung Disease

At day 3 of life, she developed bile stained vomiting and was readmitted to the neonatal intensive care unit in a stable condition. A nasogastric tube was inserted, and feeds were stopped. An abdominal radiograph showed a possible soft tissue mass in the left upper quadrant thought to be a cyst. A water-soluble contrast follow-through showed significant contrast reflux and a 2 cm contrast free area adjacent to the greater curve of the stomach. The faint round opacity seen in the left upper quadrant adjacent to residual contrast in the stomach and proximal jejunal loops on a delayed abdominal film confirmed the plain abdominal film finding (Fig. 3). A repeat USS abdomen showed the cyst to be unchanged (Fig. 2b); the bowel was gassy and several mildly dilated fluid

Isolated Abdominal Cyst in a Neonate: An Unusual Presentation of a Known Entity

Infantile hypertrophic pyloric stenosis is the commonest cause for urgent abdominal surgery in infancy. The incidence is increasing. Despite numerous theories and research the aetiology remains unknown. Prior to an understanding of the resuscitation and development of techniques of surgical correction, this condition had a very high mortality. Today, the prognosis is excellent following the correct management.

Infantile hypertrophic pyloric stenosis

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