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We report a case of one boy with ciliary aplasia characterized by diagnostic peculiarity, consisting in the initial non-diagnosis, a period of relative well-being and a relapse with good recovery after adequate therapy.

The present study has the aim of studying the morphological aspects of ciliary abnormalities in patients affected by immotile-dyskinetik cilia syndrome. Five patients affected by primary ciliary dyskinesia have been studied, examining by TEM the cells obtained by bronchial brushing during fiberoptic bronchoscopy. Many types of anomalies have been observed, and a morphologic classification was proposed. The frequency of abnormal cilia appears to be correlated to the severity of respiratory pathology. The morphological anomalies are not specific for this pathology.

The Authors during an extensive applications of nasal brushing in infancy according to Rutland and Cole, remarked--first time in literature--the contemporary presence in a child of the nemaline myopathy syndrome and immotile cilia syndrome. Supposing the possibility that in other myopathy may be present the same ciliary immotile syndrome, they studied with nasal brushing three cases of Werdnig-Hoffman syndromes: but they presented normal ciliary conformation. The Authors suppose that in case in future it should be found in other cases of nemaline myopathy the contemporary presence of dinein arms lack, it should be demonstrated that this syndrome takes derivation from a genetic alteration both of the muscular apparatus and the ciliary mobility system of bronchial epithelius.

Unlabelled: For the frequent remark in childhood of relapsing bronchitis and/or broncho-pneumonic sickness we resolved to use for the differential diagnosis the nasal brushing method according to Rutland (for samples of ciliated epithelium from the deep surface of the inferior nasal turbinate using a 2 mm diameter nasal brush. The samples were used for ultrastructural study of cilia., Results: Children studied 22:14 (6-14) y.old with relapsing bronchitis, 4 with relapsing broncho-pneumonitis, 1 Nemaline myopathy (n.m.) with heavy respiratory insufficiency; 3 Werdnig Hoffmann syndromes (W.H.). Control group of 4 normal children. In the control group and 14 relapsing bronchitis normal tubular pattern (9 + 2) and ciliary conformation were present; in the relapsing broncho-pneumonic syndrome group, 2 children presented deficiency of some brace dynein arms = chronic inflammation; in the Nemaline myopathy we noted total lack of interior dynein arms with random cilia orientation; in the 3 W.H. = normal cilia conformation. The authors noted for the heavy respiratory insufficiency of the Nemaline myopathy the presence of immotile cilia and discuss possibility that in all Nemaline myopathy syndromes this association may be present (a new syndrome?). The W.H. myopathy is characterized by normal cilia aspects and the respiratory insufficiency is caused by muscular respiratory insufficiency secondary to anterior spinal corn horn. In the Nemaline myopathy the same genetic defect can act in muscular fibres and on dynain arms (cytoskeleton). The technique described is suitable for processing epithelial brushings from other parts of the respiratory tract.(ABSTRACT TRUNCATED AT 250 WORDS)

Two children aged 9 and 8 years respectively presenting upper and lower respiratory tract infections from early childhood are presented. In both, nasal mucociliary transport was impaired (greater than 30 min) and electron microscopic examination showed cilia devoided of the inner dynein arms. This ciliary defect is one of those recognized as a cause of the Immotile Cilia Syndrome but is very rare, having been described only once in a boy affected with Kartagener's syndrome, which in turn has been reclassified in the Immotile Cilia Syndrome. Therefore the absence of inner dynein arms observed by us in the respiratory cilia of these two children clearly indicated that similarly to many other genetic disorders the immotile cilia syndrome may be determined by many defects in the axonemal structure.