Meckel-Gruber Syndrome: A Case Who Lived for 5 Months.

The Meckel-Gruber syndrome is a rare, congenital, and lethal malformation characterized by typical manifestations such as encephalocele, polycystic kidneys, and polydactyly. Herein, we present a case of a patient with the typical triad as well as facial, ocular, liver, and genital abnormalities who lived for almost 5 months.

[Congenital ciliary dyskinesia. Focus]. / Dyskinésie ciliaire congénitale. Mise au point.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia. Prevalence, about 1/15,000 to 1/30,000, is probably underestimated, as diagnosis might not be evocated in absence of Kartagener syndrome. Diagnosis is confirmed in presence of abnormal ciliary motility as well as ciliary ultrastructure. Disease-causing mutations in at least 16 genes have already been identified; analysis will be guided by the type of ultrastructural abnormalities. An early and adequate diagnosis and therapy can theoretically improve the prognosis of the disease.

Meckel-Gruber syndrome (dysencephalia splanchnocystica).

Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians.

[Congenital ciliary dysfunction in children]. / Värekarvojen synnynnäiset toimintahäiriöt lapsilla.

Congenital ciliary dysfunctions are recessively inherited disorders. The disorder is poorly recognized, if the patient has no situs inversus. The diagnosis is delayed, being made on the average at the age of over five years. The review deals with a recent European multinational survey of the occurrence, genetics, diagnostics and treatment of congenital ciliary dysfunctions. Data of Finnish pediatric patients under treatment have also been collected for the survey. The number of congenital ciliary dysfunctions found in Finland is approximately one fifth of that found in other Nordic countries.

Torque teno virus viremia load size in patients with selected congenital defects of innate immunity.

Plasma loads of torque teno virus (TTV) among individuals differ extensively beginning early in life, suggesting a role for innate immunity. Here, congenital mannose-binding lectin deficiencies, but not deficiencies in respiratory ciliary function, correlated with increased TTV loads. Notably, however, the presence of either disorder was associated with particularly high TTV loads.

Disquinesia ciliar primaria: presentación de un caso clínico / Primary ciliary dyskinesis: a clinical case

Se presenta el caso de un varón de 13 años, portador de una disquinesia ciliar primaria confirmada por biopsia. Se detalla su historia clínica, el estudio multidisciplinario realizado, así como la forma en que se llegó al diagnóstico. Junto al caso clínico, se realiza una revisión del cuadro de la disquinesia ciliar primaria, considerando sus principales aspectos clínicos y etiopatogénicos, así como los elementos diagnósticos fundamentales.

Primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed. The usual clinical picture is of recurrent upper and lower respiratory symptoms (rhinitis, glue ear, recurrent cough and sputum production), with mirror image arrangement in 50% of the children. Around 50% males have immotile sperm, but male infertility is not invariable. There are known associations between PCD and complex congenital heart disease, severe oesophageal disease, and more rarely, hydrocephalus and biliary atresia. Diagnosis is with a combination of the saccharine test, nasal nitric oxide, ciliary beat frequency and electron microscopy. Patients should be followed up by specialists familiar with the different ways of managing the upper and lower airway complications.

Communicating hydrocephalus in dogs with congenital ciliary dysfunction.

Magnetic resonance imaging (MRI) and radionuclide ventriculography were performed in 5 dogs with congenital ciliary dysfunction (CDD) and 3 normal dogs. Ventricular and brain dimensions and volumes, and CSF flow rates were measured or calculated from the MR images and radionuclide clearance. All CCD dogs had hydrocephalus based on previously published criteria of a percent vertical brain dimension (PVBD) greater than 14%. The PVBD was significantly larger (p = 0.001) in the dogs with CCD (mean +/- SD) 33.00 +/- 5.42% than in normal dogs (11.07 +/- 0.61%. The ventricular volume was significantly larger (p = 0.021) in CCD dogs 10,841 +/- 4,127 mm3 compared to the volume measured in normal dogs 3,069 +/- 1,167 mm3. The CSF flow rate was not significantly different p = 0.876) between CCD dogs (253.00 +/- 147.25 mm3/h) and normal dogs (267.667 +/- 47.61 mm3/h). This suggests that the ventricular dilation in CCD dogs is not due to impedance of CSF flow from the ventricular system by dysfunctional ependymal cilia.

Neutrophil function in dogs with congenital ciliary dyskinesia.

In vitro neutrophil function was assessed in two English Springer Spaniel dogs, two Bichon Frise dogs, and one Chow Chow dog with congenital ciliary dyskinesia; three clinically normal English Springer Spaniel dogs that were presumed heterozygous for congenital ciliary dyskinesia; and five control dogs. Chemotaxis and random migration in affected and heterozygous dogs were found to be comparable to those of control dogs. Increased (P less than or equal to 0.05) neutrophil adhesion, antibody dependent cell-mediated cytotoxicity, iodination of proteins, and oxygen radical production in neutrophils from affected dogs were probably the result of chronic bacterial infection in vivo. Bacterial ingestion by neutrophils from the three heterozygous English Springer Spaniel dogs was significantly increased compared to control dogs but was not different from affected English Springer Spaniel dogs, suggesting a breed-related phenomenon. Significant decreases in neutrophil function were not seen in any of the dogs with congenital ciliary dyskinesia, indicating that a defective microtubular system is not shared by respiratory cilia and neutrophils and that defective neutrophil function does not contribute to respiratory infection.

Congenital ciliary aplasia in two siblings. A primitive disregulation of ciliogenesis?

Congenital ciliary aplasia was demonstrated in two siblings with clinical history of primary ciliary dyskinesia. Ultrastructural histochemistry of successive bronchial biopsies revealed the predominance of immature mucous cells and the total absence of ciliated or preciliated cells in the respiratory epithelium. This original disorder may represent a unique variant of primary ciliary dyskinesia with primitive disregulation of ciliogenesis.

[Immotile cilia disease with neonatal disclosure. Ultrastructural study]. / Maladie des cils immobiles à révélation néo-natale. Etude ultrastructurale.

Recurrent bronchopulmonary and E.N.T. infections in a 2-month old child with complete situs inversus suggested an immotile cilia syndrome. Electron microscopy of the respiratory epithelium cilia demonstrated an ultra structural abnormality (defective radial spokes) typical of this recently discovered syndrome. This case is similar to 3 other cases in infants reported in the literature. It shows that the clinical manifestations of ciliary dysfunction may occur soon after birth and that early detection is desirable for optimal treatment. The type of abnormality detected and the percentage of cilia affected demonstrate that the syndrome is congenital and not acquired and provide information of the degree of ciliary dyskinesia. The genetic aspects are discussed. A diagnosis of "immotile cilia" syndrome should systematically be envisaged in infants with recurrent pneumonia or otitis of unknown aetiology, or when the clinical context (situs inversus, family history) is suggestive of the conditions.