Biomedical subjects

E Martínez-Salcedo

Publications and source records attributed to E Martínez-Salcedo.

5 recordsLinked to original sources

PubMed2006

[An unusual cause of failure of weaning from mechanical ventilation in an infant].

The weaning process is a critical phase in patients undergoing mechanical ventilation. This process can be hampered by numerous causes, such as neuromuscular diseases and spinal muscular atrophy (SMA). We present a 6-month-old boy with respiratory distress, fever, marked hypotonia without motor developmental milestones, and areflexia. The patient showed progressive respiratory distress requiring mechanical ventilation. Definitive weaning was not achieved and the boy died from respiratory failure. Partial autopsy was performed with a diagnosis of SMA and genetic study of the parents. Neuromuscular diseases are an infrequent cause of respiratory insufficiency in suckling infants. The differential diagnosis is made between axonal and motor neuron diseases. The diagnosis was confirmed by muscular biopsy and genetic study.

Fatal Outcome↗

PubMed1998

[Carpal tunnel syndrome in childhood. A case of early onset].

INTRODUCTION: The carpal tunnel syndrome (CTS) is the commonest neuropathy due to compression to be seen in adults. There are very few cases in the literature referring to patients of paediatric age, particularly those under ten years old. Most of these young patients had a metabolic disorder (mucopolysaccharidosis (MPS) or mucolipidosis (ML). In fact, as many as 90% of the MPS had CTS, sometimes subclinically. This syndrome is caused by compression of the median nerve at the level of the carpal tunnel, to which multiple factors may contribute, both local and systemic, as reviewed in this paper. The clinical findings differ from those in adults, but the appearance of suggestive symptoms and signs should make one suspect the condition and request an electromyographic study (EMG) which would be diagnostic. CLINICAL CASE: We describe the case of a five year old girl, with a clinical history suggesting the presence of a carpal tunnel syndrome for 12 months and characterized by paraesthesia and limitation of flexon-extension movements of the fingers of the affected hand, with pain on movement. The symptoms appeared on waking in the morning, gradually improved as the day advanced and became bilateral over a period of six months. The diagnosis was confirmed by EMG and MR helped to clarify the aetiology. CONCLUSION: The interesting aspect of this article is the youth of the patient, the absence of known etiological factors and the presence of tenosynovitis detected on MR as has been described in some idiopathic/familial forms.

Age Factors↗

PubMedDate not supplied

[Multiple sclerosis: a case report of early onset].

INTRODUCTION: Multiple sclerosis (MS) usually presents in young adults and is uncommon in children, especially when less than 10 years of age. Diagnosis is difficult in this age group, and we consider that Poser's diagnostic criteria should be used. CLINICAL CASE: A five year old girl presented with multiple symptoms and signs including headache, vomiting and a pyramidal syndrome. Initially there was spontaneous improvement. However, subsequently progressive worsening of the pyramidal syndrome occurred with marked cerebellar and general deterioration. On cerebral MR there were areas of increased resonance in the medulla, cerebellum, pons, periventricular white substance and basal ganglia. Acute disseminated encephalomyelitis was diagnosed (ADEM) and treatment started with corticosteroids. There was a satisfactory response and complete recovery after a few days. Eight months later she presented with right optic neuritis (ON). There was alteration of visual and somatosensory evoked potentials, signs of diffuse cerebral damage on the EEG, oligoclonal bands (OB) of IgG in the cerebrospinal fluid and new areas of increased resonance on MR. A third episode occurred 22 months after the first, with cerebellar symptoms and more areas of demyelination on MR. CONCLUSIONS: As a consequence of the low incidence of MS in the first ten years of life, the characteristic features at this age are less well defined than in adults. With reference to this case we review the differential diagnosis with ADEM since it may be very difficult or impossible to distinguish these conditions in the early stages of the illness.

Adrenal Cortex Hormones↗

PubMedDate not supplied

[Lethal nemalinic myopathy and congenital arthrogryposis].

INTRODUCTION: Nemalinic myopathy (NM) is a non progressive congenital disorder of skeletal muscle, characterized by rod like formations present in muscle fibres, whilst congenital multiple arthrogryposis (CMA) is a syndrome characterized by contractures and articular rigidity which may be due to many causes, including NM. CLINICAL CASE: A boy of 0 h of premature life, with CMA was assessed on the suspicion of neuromuscular disease with normal preliminary studies. Muscle biopsy eventually showed the typical rod like formations of NM. The clinical course was unsatisfactory and he died at the age of five months from respiratory problems. CONCLUSIONS: Diagnosis of NM requires a high index of suspicion and muscle biopsy. At the present time genetic counselling cannot be given after a sporadic case.

Arthrogryposis↗

PubMedDate not supplied

[Narcolepsy in children].

INTRODUCTION: Narcolepsy is a neurological disorder characterized by excessive somnolence during the daytime, with recurrent, irresistible episodes of sleepiness. The complete forms are associated with cataplexy, hypnagogic hallucinations and sleep paralysis. The incidence reported in adults is 4 10/10,000. A considerable proportion of adults consider their disorder to have started before the age of 15 years. It is essential to have neurophysiological confirmation of the short period of the onset of REM sleep for diagnosis. CLINICAL CASE: An 11 year old boy with diurnal hypersomnolence, behavior disorder and weight gain. He was evaluated in the Sleep Disorder Unit by polysomnography and the multiple latency test, which confirmed the suspicion of narcolepsy. CONCLUSIONS: Narcolepsy is a disorder which starts during childhood and usually goes unnoticed or is erroneously diagnosed and treated. At the present time there are valid criteria for the identification and diagnosis of children with this disorder. Treatment of these patients should be orientated towards adaptation of the environment to the child and prevention of the psychosocial problems which may be caused by this disorder, in view of the poor response to the drugs used.

Central Nervous System Stimulants↗