Acute miliary tuberculosis presenting as acute respiratory failure

A 42 year old pregnant woman was admitted in acute respiratory failute. Viral pneumonia was suspected and oxygen therapy, CPAP, water restriction and diuretics were started with good response. She remained febrile and had an abnormal chest X-ray, a diagnosis of miliary tuberculosis was confirmed by transbronchial fibreoptic lung biopsy.     

A cranio-cervical malformation presenting as acute respiratory failure

An 18-year-old, previously healthy male presented with bilateral pneumonia and acute respiratory failure with severe carbon dioxide retention. The presence of mild brainstem signs and hypoventilation led to the discovery of a platybasia, basilar invagination, and kinking of the medulla oblongata with early syrinx. He was operated upon but postoperatively was noted to have a mixed type of sleep apnea. This case illustrates the diagnostic challenge in acute respiratory failure in a previously healthy young person and the possible pathogenic mechanisms underlying it.     

Hypoglycemia presenting as acute respiratory failure in an infant

Hypoglycemia, a common metabolic abnormality seen in the pediatric population, is most often easily diagnosed and rapidly treated with satisfactory outcome. If not recognized and treated in prompt fashion, however, hypoglycemia may cause irreversible central nervous system injury or expose the patient to unnecessary procedures; it rarely results in death. The classic emergency department (ED) presentation of hypoglycemia, the diabetes mellitus patient using hypoglycemia therapy, is frequently encountered and adequately managed with excellent outcome. Alternatively, the patient may present to the ED in a fashion suggestive of a situation other than hypoglycemia. For example, the patient with an altered sensorium following a traumatic event, with a focal neurologic finding, or with bradycardia—all situations in which hypoglycemia is the causative issue—may not be immediately recognized as such a metabolic problem. This report presents a case of a 9-month-old boy who presented with acute respiratory failure and mental status change; the initial ED impression was one of pneumonia with sepsis. Further evaluation uncovered the actual reason for the mental status change and respiratory insufficiency: hypoglycemia was noted on laboratory analysis; no clinical evidence of pneumonia was found after thorough ED evaluation and a prolonged hospital stay. His mental status improved and his respiratory insufficiency resolved after glucose therapy. No other explanation for the respiratory failure was found during the hospital admission. It is imperative that the emergency physician consider hypoglycemia in all patients with any degree of mental status abnormality, even when the findings seem to be explained initially by other etiologies.     

Unsuspected 34-week pregnancy presenting as acute hypoxaemic respiratory failure

An obese body habitus may interfere with diagnosis of potentially life-threatening conditions. This report describes an obese woman who presented with acute hypoxemic respiratory failure and diffuse infiltrates. Her body habitus disguised her parturient abdomen and she could not provide a history because she was intubated and paralysed. Only after a urine pregnancy test was undertaken did it become apparent that she was pregnant and the diagnosis of pre-eclampsia with pulmonary oedema was considered. Urine pregnancy tests are part of the standard work-up for abdominal pain in women of childbearing age, but are not viewed as part of the work-up for respiratory distress or diffuse radiographic infiltrates. This case illustrates the value of obtaining a pregnancy test in all women, particularly those with obese body habitus, who present with respiratory failure of unclear aetiology.     

Bilateral Bochdalek hernias presenting as respiratory failure in an elderly patient

Bochdalek hernia occurs from a congenital defect of the diaphragm, allowing the passage of abdominal structures into the thoracic cavity, limiting lung expansion and ventilatory function. Bochdalek hernia is common in neonates but rarely occur in adults; there are only 4 documented cases in the elderly population. We present a case of an 88-year-old woman with severe hypoxia and respiratory failure that required ventilatory support, in whom bilateral Bochdalek hernias progressed over the years and severely invaded the thoracic cavity, causing acute decompensation. This is a rare condition in adults but can cause substantial morbidity when the involvement of the thoracic cavity is severe.     

Long-term management of acute respiratory failure in metabolic myopathy

Objective To describe how patients cope with the proposal of treatment with intermittent artificial ventilation after acute respiratory failure due to progressive respiratory muscle weakness.Design Case series, follow-up study.Setting Neurological intensive care unit (ICU).Patients 7 consecutive patients with metabolic myopathy treated for acute respiratory failure between 1983 and 1992.Interventions Intermittent positive pressure ventilation (IPPV) via tracheostomy.Measurements and results Symptoms of chronic hypoventilation preceded acute respiratory failure for months. With one exception, patients were mainly disabled from respiratory muscle weakness and sleep-related breathing disorders. IPPV was recommended to prevent recurrent respiratory failure. Two of three patients who accepted home IPPV returned to full-time jobs. One patient, who decided against IPPV, died from CO₂ narcosis several months after discharge. All patients adhered to the respiratory regimen once instituted.Conclusions Acute respiratory failure in chronic myopathy is heralded by daytime drowsiness. IPPV, or at least regular monitoring of waking and sleeping partial pressure of carbon dioxide, is highly recommended even if weaning is successful. IPPV improved quality of life. The treatment strategy at discharge from the ICU should be optimal, as patients are reluctant to modify regimens.     

Life-threatening respiratory failure due to a previously undescribed myopathy

The case of a young man with a previously undescribed myopathy associated with polydactyly is reported. Although both limb girdles were affected, the major effect of the disease was upon the respiratory muscles leading to his presentation with life-threatening respiratory failure. A further feature was pronounced stiffness of the vertebral column and limb girdles, similar in some respects to the 'rigid spine syndrome'. Muscle biopsy appearances were unique but showed some similarities to both nemaline myopathy and myotonic dystrophy. Ventilatory assistance at night using a rocking bed led to a marked improvement and has enabled the patient to return to full-time employment.     

Pulmonary sarcoidosis presenting with acute respiratory failure

This is a case report of pulmonary sarcoidosis presenting with acute respiratory failure. A 33-year-old black man presented with 4 days of headache and fever. He had subsequent development of respiratory failure on the seventh hospital day. Workup showed high serum angiotensin-converting enzyme and increased pulmonary parenchymal uptake of gallium. Extensive workup for collagen vascular disease and infectious pathology were negative. Transbronchial biopsy specimens of the lung parenchyma showed noncaseating epithelioid granulomas consistent with sarcoidosis. The patient was treated with intravenous methylprednisolone succinate with dramatic clinical improvement.     

Motor neuron disease presenting with respiratory failure

POSTGRADUATE MEDICINE invites submission of brief case reports, especially those related to ambulatory medical care. Illustrations and references should be included only when essential.     

Infantile form of nemaline (rod inclusion) myopathy

This paper reports the first Austrian case of infantile nemaline myopathy in a girl aged 19 years, presenting with congenital skeletal dysplasia, reduced body weight and slowly progressive limb girdle muscular atrophy, myopathic face and difficulty in swallowing. Electromyography revealed a combination of myopathic and neurogenic lesions, while electron microscopy of a muscle biopsy established the diagnosis. The patient's mother and two elder brothers showed no clinical features of the disease, but neurophysiological abnormalities were present, indicating an asymptomatic form of illness. The aetiology and pathogenesis of nemaline myopathy are unknown, but neurogenic factors cannot be excluded.     

杆状体肌病的临床病理特征与预后分析

杆状体肌病(NM)为一种少见的先天性肌病,报告1例成人晚发肌病患者的临床表现、实验室及肌肉病理检查,电镜下观察到多数肌纤维中含有大量源于Z线的杆状体,确诊为NM。结合国内外文献探讨NM的临床与病理特点,对于有近端肢体无力特别是合并有免疫系统疾病的患者行MGT染色或电镜检查将避免NM的误诊,早期功能锻炼可改善此类患者的预后。     

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sanger sequencing, we identified homozygous or compound heterozygous variants in LMOD3 in 21 patients from 14 families with severe, usually lethal, NM. LMOD3 encodes leiomodin-3 (LMOD3), a 65-kDa protein expressed in skeletal and cardiac muscle. LMOD3 was expressed from early stages of muscle differentiation; localized to actin thin filaments, with enrichment near the pointed ends; and had strong actin filament-nucleating activity. Loss of LMOD3 in patient muscle resulted in shortening and disorganization of thin filaments. Knockdown of lmod3 in zebrafish replicated NM-associated functional and pathological phenotypes. Together, these findings indicate that mutations in the gene encoding LMOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.     

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved. Here, we demonstrated that loss of a muscle-specific protein, kelch-like family member 40 (KLHL40), results in a nemaline-like myopathy in mice that closely phenocopies muscle abnormalities observed in KLHL40-deficient patients. We determined that KLHL40 localizes to the sarcomere I band and A band and binds to nebulin (NEB), a protein frequently implicated in NM, as well as a putative thin filament protein, leiomodin 3 (LMOD3). KLHL40 belongs to the BTB-BACK-kelch (BBK) family of proteins, some of which have been shown to promote degradation of their substrates. In contrast, we found that KLHL40 promotes stability of NEB and LMOD3 and blocks LMOD3 ubiquitination. Accordingly, NEB and LMOD3 were reduced in skeletal muscle of both Klhl40^–/– mice and KLHL40-deficient patients. Loss of sarcomere thin filament proteins is a frequent cause of NM; therefore, our data that KLHL40 stabilizes NEB and LMOD3 provide a potential basis for the development of NM in KLHL40-deficient patients.     

McArdle disease presenting as acute renal failure

In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an inability to degrade glycogen stores. We present a novel case of McArdle disease (glycogen storage disease V [GSDV]) in a patient who had sickle cell trait and bulimia. The disease went unrecognized despite several admissions to the hospital with increased creatine kinase and muscle myopathy until the patient's initial presentation with acute renal failure.     

Primary sepsis presenting as fulminant hepatic failure

Four patients who were referred to the Liver Failure Unit with an initial diagnosis of fulminant hepatic failure were found to have severe bacterial infection from a primary septic focus as the cause of their illness. Clinical and biochemical characteristics were not helpful in differentiating these patients from those with hepatic failure from other causes, and only a high degree of suspicion will prevent delay in the diagnosis of underlying sepsis and initiation of appropriate treatment. The possible mechanisms responsible for this uncommon association are discussed.     

Miliary tuberculosis presenting as adult respiratory distress syndrome

We report the history of a 27-year-old Caucasian girl who died of adult respiratory distress syndrome secondary to miliary tuberculosis (MTB), after treatment with antibiotics to which the organism was sensitive, and a long period of ventilation. This case emphasises the importance of considering MTB as the cause of respiratory failure when another aetiology is not apparent.