Acute presentation of congenital diaphragmatic hernia past the neonatal period: a life threatening emergency

Purpose

Major gastric distension in the left hemithorax can threaten life in patients with congenital diaphragmatic hernia (CDH) presenting after the neonatal period. After presentation of two paediatric cases, guidelines for the optimal care of these patients are given.

Clinical features

Both children had respiratory and cardiocirculatory compromise on arrival. The diagnosis of late presenting CDH was made and the severity of symptoms was related to a voluminous distension of an intrathoracic stomach. Successful placement of an naso-gastric tube in the first patient, lead to a rapid clinical improvement, allowing surgical repair. In the second patient, oroor naso-gastric decompression was not possible and, while the lungs were mechanically ventilated and the patient was prepared for surgery, a sudden cardiocirculatory arrest was managed by external chest compressions and rescuscitation drugs. Transthoracic percutaneous decompression of the stomach was the sole treatment allowing spontaneous cardiac activity to reappear, and haemodynamic condition to normalize. However, the child died from brain death after this episode.

Conclusion

Gastric decompression is the key for the treatment of patients with CDH who present respiratory and/or cardiocirculatory distress due to the intrathoracic distension of the stomach. If an oroor naso-gastric decompression is not possible, then radiologically directed percutaneous decompression under local anaesthesia is required. After decompression, the patient is prepared for surgery, with particular emphasis on fluids infusion, in order to correct the frequently associated hypovolaemia:     

Continuer,limiter ou arrêter ? Évolution des modalités de décès sur une période de 6 ans en réanimation pédiatrique

Since 2005, forgoing live-support (FLS) is allowed by the French law (known as the Leonetti law) for end-of-life patients only. This study aims at describing the variations over time in the use of the following methods to end life: FLS, brain death and cardiopulmonary resuscitation failure (CPR failure). It is a single retrospective study from 2007 to 2012. The Cochran-Armitage trend test is used in the statistical analysis. Over six years, 263 of the 5100 children who were hospitalized in our intensive care unit died, which represents a 5.2% mortality rate. FLS increased yearly from 31% of the deaths in 2007, to 71% in 2012 (P = 0.0008). The rate of CPR failure decreased over the same period (P = 0.0015). The rate of brain death remained constant. Following to the Leonetti law, FLS increase, and palliative cares develop without any increase of mortality.     

Shaken baby syndrome: improvement of cerebral blood flow velocity after a subdural external derivation in a six-month old infant

The shaken baby syndrome is a severe form of child abuse. The intracranial injuries are associated with a high morbidity and mortality rates. A 6 month-old healthy infant presented at home a cardiorespiratory arrest. After a cardiopulmonary resuscitation, radiological survey showed sub-dural haematomas and retinal haemorrhages, without a history of trauma. The diagnosis of shaken baby syndrome was made. Despite medical management and a fontanelle tap, clinical signs of intracranial hypertension worsened. Transcranial Doppler examination found the cerebral blood flow velocities to be decreased while the pulsatility index was increased. A sub-dural-external drainage allowed the cerebral blood flow to increase and the pulsatility index to decrease. We conclude that transcranial Doppler examination can be helpful for the clinician caring children presenting a shaken baby syndrome.     

Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features

OBJECTIVES: To describe the clinical manifestations of familial Mediterranean fever (FMF) in 91 patients from 47 families and provide data from the genetic study. P:atients and methods. We conducted a retrospective chart review of 91 patients (including 83 children aged <15 yr) from 47 families through a questionnaire and a specific database. The genetic analysis included complete screening of known mutations of the MEFV gene on chromosome 16p13.3. A positive diagnosis required at least two mutations, one on each chromosome. RESULTS: Our panel included 52 females and 39 males, with a mean age of 7.27 yr. Of the 47 families, 31 were non-Ashkenazi Jews, 10 were Armenians and six were from other ethnic groups. Clinical features included fever (100%), peritonitis (86%), pleuritis (56%), arthritis (34%) and myalgias (27%). We observed a high rate of cutaneous manifestations (47%); erythema, oedema and recurrent oral ulcers were the most frequent. Phenotype-genotype correlations showed a significant association of M694V homozygosity with earlier age of onset (P: = 0.044), fever >39 degrees C (P: = 0. 002), pleural crisis (P: = 0.0044), splenomegaly (P: = 0.0005) and arthritis (P: = 0.001). Associations with mucocutaneous features were as follows: erysipelas-like erythema (P: = 0.012), oedema (P: = 0.61, not significant) and oral ulcers (P: = 0.45, not significant). CONCLUSION: New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema. Apart from erysipelas-like erythema, no significant association was found between other cutaneous features and the genotype.     

Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure

A 3-yr-old boy received valproic acid (VPA) for recurrent seizures. He developed coma and acute liver failure that were attributed to VPA toxicity, and underwent emergency orthotopic liver transplantation (OLTx). Despite good graft function, his neurological state worsened and led to death a few months later. The diagnosis of Alpers-Huttenlocher Syndrome (AHS) was suspected, subsequently to liver Tx, in view of ongoing neurologic deterioration and magnetic resonance imaging (MRI) findings. The syndrome, recessively inherited, associates brain degeneration with liver failure, and is now considered a mitochondrial disease. Enzyme activity deficiencies of the respiratory chain were identified in muscle mitochondria, as well as morphologic abnormalities of mitochondria in the explanted liver. Guidelines for diagnosis are presented, in order to differentiate the liver failure in AHS from that induced by genuine VPA toxicity. It is recommended to avoid liver Tx in patients with AHS given the fatal neurological course of the disease.