Cases reported "Cyanosis"

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1/12. Normal pulse oximeter reading in a cyanotic infant.

    A newborn infant who presented with central cyanosis was found to have hereditary methaemoglobinaemia. The pulse oximeter readings and physical findings were incompatible. Clinical assessment remains an important part in the management of such cases.
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keywords = physical
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2/12. diagnosis and therapeutics of pulmonary arteriovenous fistula in childhood. Case report and review of the literature.

    We report the case of a 3-year-old female patient, who, since birth, had cyanosis difficult to explain with usual diagnostic tests. The only findings on physical examination were cyanosis and clubbing of her fingers. Chest computerized tomography showed images of excessive attenuation in the right lung, which resembled arteriovenous fistulae that were later confirmed on cardiac catheterization. The fistulous trajectories were then embolized with 7 Gianturco coils, which resulted in an immediate increase in the arterial saturation of blood oxygen.
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keywords = physical examination, physical
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3/12. Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report.

    cyanosis is a physical finding that can occur at any age but presents the greatest challenge when it occurs in the newborn. The cause is multiple, and it usually represents an ominous sign, especially when it occurs in association with neonatal sepsis, cyanotic congenital heart disease, and airway abnormalities. cyanosis caused by abnormal forms of hemoglobin can also be life-threatening, and early recognition is mandatory to prevent unnecessary investigations and delay in management. Abnormal hemoglobin, such as hemoglobin m, is traditionally discovered by electrophoresis, so the newborn screen, which is mandatory in several states, is a useful tool for the diagnosis. Although acquired methemoglobinemia, caused by environmental oxidizing agents, is common, congenital deficiency of the innate reducing enzyme is so rare that only a few cases are documented in the medical literature around the world. We present a neonate with cyanosis as a result of congenital deficiency of the reduced nicotinamide adenine dinucleotide-cytochrome b5 reductase enzyme. This infant was found to be blue at a routine newborn follow-up visit. sepsis, structural congenital heart disease, prenatal administration, and ingestion of oxidant dyes were excluded as a cause of the cyanosis by history and appropriate tests. Chocolate discoloration of arterial blood provided a clue to the diagnosis. A normal newborn screen and hemoglobin electrophoresis made the diagnosis of hemoglobin m unlikely as the cause of the methemoglobinemia (Hb A 59.4%, A2 1.8%, and F 38.8%). Red blood cell enzyme activity and dna analysis revealed a homozygous form of the cytochrome b5 reductase enzyme deficiency. He responded very well to daily methylene blue and ascorbic acid administration, and he has normal growth and developmental parameters, although he shows an exaggerated increase in his methemoglobin level with minor oxidant stress such as diarrhea.
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keywords = physical
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4/12. Abnormalities of surfactant in children with recurrent cyanotic episodes.

    The mechanism of recurrent cyanotic episodes in infants and children is not known, but a deficiency of surfactant is a possible cause. We have measured the amount of surfactant collected by bronchoalveolar lavage from two children with recurrent cyanotic episodes and from two controls with anatomical airway obstructions. We also assessed the physical properties of the surfactant by changing the surface area (A) of a monolayer and measuring its surface tension (gamma). The cases had lower amounts of surfactant extracted, which could explain some of the abnormalities of the gamma/A loops. However, the finding that the cases had reversed loops (ie, the surface tension is higher during monolayer compression than during expansion) shows that there is also a qualitative abnormality. These features suggest a possible diagnostic test if not a mechanism for this disorder.
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keywords = physical
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5/12. Breath-holding spells in somatoform disorder.

    Breath-holding spells (BHS) are commonly seen in childhood. However, there are no case reports of BHS occurring in adolescents or young adults. We report two young adult cases and discuss the pathogensis, both physically and psychologically. BHS occurred for 1-2 minutes after hyperventilation accompanied by cyanosis in both cases. oxygen saturation was markedly decreased. Each patient had shown distress and a regressed state psychologically. These cyanotic BHS occurred after hyperventilation, and we considered that a complex interplay of hyperventilation followed by expiratory apnea increased intrathoracic pressure and respiratory spasm. Breath-holding spells can occur beyond childhood.
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6/12. Fourteen cases of imposed upper airway obstruction.

    Imposed upper airway obstruction was diagnosed as the cause of recurrent and severe cyanotic episodes in 14 patients. Episodes started between 0.8 and 33 months of age (median 1.4) and occurred over a period of 0.8 to 20 months (median 3.5). diagnosis was made by covert video surveillance, instituted after either (a) the observation that episodes began only in the presence of one person, or (b) characteristic findings on physiological recordings, lasting between 12 hours and three weeks, performed in hospital or at home. Surveillance was undertaken for between 15 minutes and 12 days (median 24 hours) and resulted in safety for the patient and psychiatric assessment of the parent: mother (n = 12), father (n = 1), and grandmother (n = 1). These revealed histories of sexual, physical, or emotional abuse (n = 11), self harm (n = 9), factitious illness (n = 7), eating disorder (n = 10), and previous involvement with a psychiatrist (n = 7). Management of the abusing parents is complex, but recognition of their psychosocial characteristics may allow earlier diagnosis. Imposed upper airway obstruction should be considered and excluded by physiological recordings in any infant or young child with recurrent cyanotic episodes. If physiological recordings fail to substantiate a natural cause for episodes, covert video surveillance may be essential to protect the child from further injury or death.
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7/12. Congenital pulmonary arteriovenous fistula: a rare cause of cyanosis in childhood.

    Two children (both females) aged 15 months and 4 years are described as very rare cases of central cyanosis in childhood being caused by a congenital pulmonary arteriovenous fistula. The initial diagnosis was made based on cyanosis and chest radiographs, with normal physical, ECG, and radiological findings of the heart. They had no family history of the Rendu-Weber-Osler syndrome. The patients underwent cardiac catheterization and pulmonary angiography, where the diagnosis was confirmed. After the surgery, both were symptom-free, and had no evidence of the disease.
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keywords = physical
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8/12. A case of attempted suicide by self-hanging.

    A young man arrived at the accident and emergency department after attempting suicidal self-hanging. He was cyanosed and showed severe respiratory distress. His posture, hyperreflexia and state of consciousness suggested decerebration. A dire prognosis was expected. Four days later he recovered. No residual physical or mental sequelae were found during follow up. The "post-suspension syndrome" in our case was similar to those recorded in several continental reviews. Apart from a case report of a "miraculous deliverance" following an unsuccessful judicial hanging at Oxford in 1650, no other report of this syndrome has been made in the English literature. This syndrome has an excellent prognosis and requires very little active intervention to ensure a favourable outcome.
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9/12. nuchal cord: an unusual manifestation.

    This case report describes an unusual manifestation of nuchal cord--significant fetal neck compression without compromised cord blood flow. The physical signs and clinical outcome of this infant are reported.
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10/12. Cyanotic crises in a breast-fed infant from mother taking dipyrone.

    Cyanotic crises occurred in a breast-fed infant whose mother was under treatment with dipyrone for a sore throat. No abnormalities were found at physical and routine laboratory examinations. dipyrone concentrations in mother's serum and milk and in infant's serum and urine were 3.3, 4.3 and 3.2, 3.74 micrograms/ml respectively. It is concluded that the adverse effect could be due to dipyrone ingested with mother's milk.
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