ABSTRACT
INTRODUCTION: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare and an unusual cause of airway obstruction in newborns. OBSERVATION: We report the case of a female neonate delivered by C-section at 39 weeks of amenorrhea for hydramnios and macrosomia. She presented with mandibular retrognathia, nasal saddling, submucous cleft palate, and loud mouth respiration. She presented with cyanosis every time feeding was attempted. CT revealed permeable choans with a single central incisor and nasal pyriform aperture stenosis. Nasal respiration returned to normal progressively after 56 days of hospitalization. The status was unchanged at 5 months. DISCUSSION: CNPAS is a rare cause of congenital nasal obstruction. It is sometimes associated to a median incisor syndrome. The diagnosis should be made as early as possible for an optimal management. Cyanosis and swallowing disorders may be lethal consequences. Associated abnormalities should be screened for with TDM or MRI. The treatment depends on the severity and may be surgical for a severe stenosis. The prognosis is good if no severe malformation or mental retardation is associated.
Subject(s)
Nasal Cavity/abnormalities , Nasal Obstruction/congenital , Adult , Cleft Palate/pathology , Constriction, Pathologic/congenital , Female , Follow-Up Studies , Humans , Infant, Newborn , Mouth Breathing/congenital , Retrognathia/pathologyABSTRACT
BACKGROUND: Meconium aspiration syndrome is a disease of the newborn mature or post mature. The acute pulmonary consequences can be extremely severe. In the few studies of the long-term pulmonary sequelae, it seems that certain children surviving meconium aspiration syndrome keep an obstructive syndrome. The aim of our study was to assess long term respiratory residual damage from meconium aspiration syndrome. METHODS: During a seven-year period going from 1994 to 2000, we reviewed the files of children hospitalized in neonatology department of Sfax for meconium aspiration syndrome. The children who were convoked (group M: n=27), underwent spirometry, followed by an exercise stress. An age matched control group (group C: n=23) of healthy children was investigated in the same way. RESULTS: The group M comprised 15 boys and 12 girls aged four to 11, an average of 7+/-1.9 years. With the study of the respiratory function, we did not find an obstructive syndrome. Spirometry revealed a total pulmonary capacity in an average of 133+/-55.65% of theoretical (group M) versus 105.5+/-27.96% of theoretical (group C) (P<0,01), testifying to alveolar hyperinflation. Spirometry fulfilled 5, 10 and 15 min after exercise showed a FEV1 reduction of respectively 8.5 versus 2 (P<0.05); 9.5 versus 3 (P<0.01) and 10.5 versus 4 (P<0.05). CONCLUSION: Children surviving meconium aspiration syndrome tend to develop alveolar hyperinflation and airway hyperreactivity to exercise.
Subject(s)
Lung Diseases/etiology , Lung/physiology , Meconium Aspiration Syndrome , Bronchial Diseases , Bronchial Hyperreactivity/diagnosis , Bronchial Hyperreactivity/etiology , Case-Control Studies , Child , Child, Preschool , Exercise Test , Female , Follow-Up Studies , Forced Expiratory Volume , Humans , Infant, Newborn , Lung/physiopathology , Male , Meconium Aspiration Syndrome/physiopathology , Pulmonary Alveoli/physiopathology , Respiratory Distress Syndrome, Newborn/etiology , Spirometry , Time Factors , Total Lung CapacityABSTRACT
Renal tubular dysgenesis (RTD) is a rare and severe nephropathy characterized by persistent fetal anuria leading to oligohydramnios with the Potter sequence, and perinatal death. The diagnosis is based on the histological finding of absence or paucity of proximal tubules. A consanguineous family is described in which 2 siblings, born after pregnancies complicated by oligohydramnios were affected with RTD. Patients were small for gestational age at birth. The first patient died after a few hours, the second after a few days of life, with persistent anuria unresponsive to treatment. Histologically, there was marked reduction in the number of proximal tubule sections and no renin was detected by immunohistochemistry. An homozygous mutation of the gene encoding renin was identified in both patients. This study underlines the interest of the histological examination of the kidney for the diagnostic of RTD in anuric fetuses and newborns, and the possibility of mutation analysis of RAS genes for genetic counselling and early prenatal diagnosis.
