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A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Kwon KA, Park SE, Byun SY, Kim SY, Hwang SH - J. Korean Med. Sci. (2010)

Bottom Line: This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases.The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system.He consistently needs ventilator support during sleep and remains alive.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.

ABSTRACT
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.

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Related in: MedlinePlus

Changes of respiratory rate, PaCO2, and SpO2 during sleep and wakefulness while the patient was not supported by mechanical ventilation.
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Figure 2: Changes of respiratory rate, PaCO2, and SpO2 during sleep and wakefulness while the patient was not supported by mechanical ventilation.

Mentions: A 3,070 g male at 41 weeks gestation age was born in our hospital via cesarean section because of cephalopelvic disproportion on July 26, 2007. His mother was healthy during her pregnancy (gravida 1, para 0). The boy was well at birth, with Apgar scores of 7 and 9 at 1 and 5 min, respectively. He repeatedly had apnea with cyanosis and desaturation, noticed from the 15 hr after birth, and improved by awakening. He sometimes developed seizures when the PaCO2 accumulated, which needed supportive care with mechanical ventilation. No abnormalities were noted on the chest radiograph, EEG (Fig. 1), MRI of the brain, echocardiography and screening blood tests for metabolic disease. Symptoms of respiratory failure with slow and irregular respiratory effort, cyanosis and seizures due to hypercapnia appeared during sleep but not during wakefulness (Fig. 2). The diagnosis of CCHS was suspected. Peripheral blood samples for the gene study were obtained from the patient and his mother at the age of 33 days with consented document of the family.


A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Kwon KA, Park SE, Byun SY, Kim SY, Hwang SH - J. Korean Med. Sci. (2010)

Changes of respiratory rate, PaCO2, and SpO2 during sleep and wakefulness while the patient was not supported by mechanical ventilation.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2908799&req=5

Figure 2: Changes of respiratory rate, PaCO2, and SpO2 during sleep and wakefulness while the patient was not supported by mechanical ventilation.
Mentions: A 3,070 g male at 41 weeks gestation age was born in our hospital via cesarean section because of cephalopelvic disproportion on July 26, 2007. His mother was healthy during her pregnancy (gravida 1, para 0). The boy was well at birth, with Apgar scores of 7 and 9 at 1 and 5 min, respectively. He repeatedly had apnea with cyanosis and desaturation, noticed from the 15 hr after birth, and improved by awakening. He sometimes developed seizures when the PaCO2 accumulated, which needed supportive care with mechanical ventilation. No abnormalities were noted on the chest radiograph, EEG (Fig. 1), MRI of the brain, echocardiography and screening blood tests for metabolic disease. Symptoms of respiratory failure with slow and irregular respiratory effort, cyanosis and seizures due to hypercapnia appeared during sleep but not during wakefulness (Fig. 2). The diagnosis of CCHS was suspected. Peripheral blood samples for the gene study were obtained from the patient and his mother at the age of 33 days with consented document of the family.

Bottom Line: This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases.The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system.He consistently needs ventilator support during sleep and remains alive.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.

ABSTRACT
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.

Show MeSH
Related in: MedlinePlus