#76
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Метаболическая идея - good. Но при Гоше вроде бы другая клиника. Пойду дальше думать.
P.S. Нет ли у мамы диабета? |
#77
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[Ссылки доступны только зарегистрированным пользователям ]
[Ссылки доступны только зарегистрированным пользователям ] [Ссылки доступны только зарегистрированным пользователям ] [Ссылки доступны только зарегистрированным пользователям ] В общем, если мама не диабетик, то, наверное, здесь нужно искать. Пойду спать. |
#78
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Хотелось бы сделать суточный мониторинг для исключения аритмий.
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#79
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Странно: ЭХО есть, а Допплера нет. Как так?
Надо все-таки сначала исключить всякую ерунду типа AtrioVentricular septal defect. Ведь все явления, обнаруженные на ультразвяке и рентгене появились не в одночасье.. |
#80
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Я думаю, ерунда не получится. Гипертрофия обоих желудочков. Пападоктор прав. Дело серьезное. Что-то не синтезируется.
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#81
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Цитата:
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#82
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Значит что-то не синтезируется или не метаболизируется.
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#83
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Слово сказано
The clinical picture clearly indicated a hypertrophic cardiomyopathy. Viral titers for coxsackievirus, enterovirus, and Epstein-Barr virus were negative. Carnitine levels were normal. Based on the ECG and echocardiographic results, suspicion was high for Pompe disease. A skin biopsy for fibroblast culture and a blood assay for acid alpha-glucosidase activity revealed diminished activity, thus confirming the diagnosis. The Disorder Pompe disease belongs to a group of inborn errors of metabolism referred to as glycogen storage diseases. These diseases are caused by a deficiency or absence of one of the enzymes involved in glycogen metabolism that results in the accumulation of glycogen in tissues. Glycogen storage diseases are classified numerically based on the chronologic order in which the enzyme was discovered. Pompe disease is a type II glycogen storage disease. The enzyme defect in Pompe disease involves lysosomal acid alpha-glucosidase or acid maltase. This enzyme is responsible for the degradation of glycogen in lysosomes, technically making Pompe disease a lysosomal storage disease. The incidence of Pompe disease is 1 in 40,000 live births; it is transmitted in an autosomal recessive pattern. The gene locus for the enzyme has been localized to chromosome 17q25.2. No ethnic predilection exists. The range of phenotypic expression is wide, varying in age of onset and organ involvement, but all variations involve a myopathy. The infantile form is the most severe. It is associated with cardiomegaly and hypotonia, with death occurring usually before the age of 2 years. Affected children typically appear normal at birth but soon develop generalized muscle weakness, feeding difficulties, macroglossia, hepatomegaly, and progressively worsening heart failure due to hypertrophic cardiomyopathy. The classic ECG finding consists of high-voltage QRS complexes with a shortened PR interval (Fig. 1). Death usually results from cardiorespiratory failure or from aspiration pneumonia. The juvenile-onset form usually presents in adolescence but can manifest as early as age 1 year with delayed motor development or difficulty walking. Affected children develop oromotor dysfunction and swallowing difficulties. Death may occur before the second decade from cardiorespiratory failure. The degree of cardiomegaly is variable, but overt cardiac failure unusual. An adult form also presents as a slowly progressive myopathy. A Misleading Sign This case shows that not all wheezing should be assumed to be a result of acute bronchiolitis. Wheezing occasionally is heard in patients who have congestive heart failure. In hypertrophic cardiomyopathic states, the reduction in ventricular compliance and relaxation leads to elevated diastolic and end-diastolic pressures, which cause elevated left atrial pressure and volume and increased pulmonary venous and pulmonary capillary pressure. If the latter exceeds the plasma oncotic pressure, interstitial lung fluid develops initially, followed by alveolar edema. The clinical counterparts are moist rales and, occasionally, wheezing. Marked cardiomegaly, as in this case, can cause wheezing by extrinsic pressure on airways. Differential Diagnosis Given the unique and acute constellation of findings, the differential diagnosis of infantile Pompe disease is limited. However, valuable time can be lost between the onset of symptoms and consideration of the diagnosis. Most infants survive only a few months beyond the time of diagnosis, necessitating the need for a rapid diagnosis so supportive therapy can be started. Diagnosing this condition requires considerable suspicion and awareness of the disease on the part of pediatricians and specialists. In older children, signs and symptoms can be insidious and attenuated, thus delaying the diagnosis. Diseases that have been mistaken for infantile Pompe disease because they cause either hypotonia or cardiomyopathy include Werdnig-Hoffman disease, hypothyroidism, myocarditis, endocardial fibroelastosis, Krabbe disease, congenital muscular dystrophy, and respiratory chain disorders. Few, if any, diseases are associated with both hypotonia and cardiomyopathy in infancy. Werdnig-Hoffman disease, a type of spinal muscular atrophy (SMA), presents with hypotonia but also can be associated with structural congenital heart defects, but not cardiomyopathy. Type III SMA is associated with hypotonia and dilated cardiomyopathy but presents in adolescence. Congenital hypothyroidism is associated with hypotonia but not (usually) cardiomyopathy. The presence of hypotonia along with cardiomegaly virtually confirms the diagnosis of Pompe disease. Diseases that can mimic some of the symptoms of the juvenile form include poliomyelitis, limb-girdle muscular dystrophy, Becker muscular dystrophy, and myasthenia gravis. Laboratory Findings Laboratory findings consist of elevated creatine kinase, AST, and lactate dehydrogenase levels. Chest radiography reveals massive cardiomegaly and often provides the first clue that the child has Pompe disease. Echocardiography and electrocardiography are used to assess the degree and severity of cardiac involvement. Echocardiography demonstrates hypertrophic cardiomyopathy with thickening of both ventricles and the interventricular septum. ECG findings are as mentioned previously. Muscle biopsy shows the presence of vacuoles that stain positively for glycogen. The definitive diagnosis is established by testing for the absence or reduced levels of acid alpha-glucosidase in muscle, cultured skin fibroblasts, or blood. Skin biopsy is preferred. Therapy No definitive treatment exists for Pompe disease. A high-protein diet may be beneficial in the juvenile and adult forms. Nocturnal ventilatory support for patients who have late-onset disease improves the quality of life and can be beneficial during the phase of respiratory decompensation. Recent clinical trials involving enzyme replacement therapy with recombinant acid alpha-glucosidase have shown a decrease in cardiomegaly and improved cardiac and skeletal muscle function, with increased survival. These trials offer some hope in the treatment of an otherwise devastating disease. Lessons for the Clinician Pompe disease is a rare but devastating disease that has a unique constellation of signs and symptoms. Diagnosis requires a high degree of suspicion; a timely diagnosis can help ensure that the child receives proper supportive therapy. This case also illustrates how an uncommon disease such as Pompe disease can present with common symptoms such as coughing or wheezing. |
#84
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Мы вчера в чате долго это обсуждали, и я ушла спать, будучи уверенная, что Яна напишет свою логичную версию сразу. Ан нет, пришлось подтолкнуть. Яне медаль.
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#85
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Очень интересно и полезно.Спасибо.
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#86
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Is there any treatment?
Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of Pompe disease. [Ссылки доступны только зарегистрированным пользователям ] P.S. Не, мне не надо медаль. Я эту знала задачку. Sorry )))) |
#87
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A 7-year-old-girl who has type 1 diabetes mellitus is admitted to the hospital with a 1-month history of intermittent weakness of her lower extremities associated with pain in her feet and lower legs. The weakness is worse in the morning, when she is unable to walk. She has no associated numbness, and her weakness is not related to activity, food, or cold.
The physical examination reveals an alert, oriented girl who has normal cardiovascular, pulmonary, and abdominal findings. The neurologic examination shows intact cranial nerves. She has good tone and strength levels of 5/5 in her arms and 4/5 in her legs, with preserved sensation and deep tendon reflexes throughout. She is able to bear weight with help but cannot take any independent steps. Laboratory tests to determine the cause of her muscle weakness show a normal CBC and chemistry panel, thyroid-stimulating hormone level of 0.97 U/L (normal, 0.35 to 5.5 U/L), free thyroxine of 15.6 pmol/L (normal, 11.5 to 22.7 pmol/L), creatine kinase of 66 U/L, ESR of 40 mm/hr, and ECG that shows a corrected QT interval of 0.44. Предположения по диагнозу? Чем и как его можно подтвердить? |
#88
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А электролиты входят в chemistry panel ?
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#89
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Да.
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#90
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Цитата:
З.Ы. Заметки психиатра, на полях |