Pulmonary arteriovenous malformation: An uncommon cause for cyanosis in the newborn

Pediatric Radiology - Pulmonary arteriovenous malformation is an uncommon cause of cyanosis and heart failure in newborns. A case is presented with review of the literature in order to emphasize...     

Congenital pulmonary vein stenosis as a rare cause of pulmonary hypertension]

We report on the history, the diagnostic, and the operative procedure in an infant with congenital stenosis of all pulmonary veins. First symptoms such as failure to thrive, tachydyspnea, tachycardia and hepatomegaly occurred in the eighth week of life. Electrocardiography, 2-dimensional echocardiography and radiography of the chest were unspecific. After recurrent episodes of pulmonary oedema cardiac catheterization was performed: bilaterally elevated pulmonary artery wedge pressure and a normal left atrial pressure proved pulmonary venous obstruction. Severe stenosis of all pulmonary veins was apparent cineangiographically only by selective injections into the right and left pulmonary artery branches in wedge position. The operation (excision of the stenotic area and reimplantation using autologous pericardium) was unsuccessful as in most cases described in the literature. Congenital stenosis of all pulmonary veins is a rapidly progressive malformation. Death occurs usually in the first year of life with and without operation.     

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.     

A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I]

Phenylalanine, the direct precursor of tyrosine, is rarely increased in tyrosinemia I. We report on a case of tyrosinemia type I diagnosed through neonatal hyperphenylalaninemia. This case report points out the need for a biological evaluation of the hepatic function in cases of neonatal hyperphenylalaninemia.     

Kingella kingae: a rare cause of meningitis]

Kingella kingae is the second most frequent germ involved in arthritis affecting young children. This germ isolation on ordinary environment is difficult, which may explain why it is seldom known. It is now widely accepted that a direct inoculate of articular and osseous samples on liquid substrate improves the culture sensitivity. Other septic localizations have been described such as endocarditis or, less commonly, meningitis. CASE REPORT: We report the observation of a five-year-old child, treated for meningitis, with CSF culture showing evidence of scarce colonies of Kingella kingae. CONCLUSION: By analogy with arthritis, Kingella kingae may regularly be undetected, not being isolated, in some cases of non-documented meningitis with a cerebrospinal fluid (CSF) cytology recalling a bacterial origin. It would be of interest to verify if the seeding of CSF in liquid substrate would increase the sensitiveness of the cultures.     

A very rare case of polysplenia syndrome with congenital diffuse pulmonary arteriovenous fistulas

A five-year-old girl patient was admitted with cyanosis and dyspnea, which started from birth. She had small telangiectatic lesions on her face and cerebral arteriovenous malformation, but no family history of hereditary hemorrhagic telangiectasia. Contrast echocardiography and pulmonary angiography demonstrated diffuse pulmonary arteriovenous fistulas. The patient was diagnosed as polysplenia syndrome characterized with left atrial isomerism, interrupted inferior vena cava, azygous continuation to the superior vena cava, and hepatic veins draining to the right atrium. In contrast to the other polysplenia syndrome cases, in this patient, pulmonary arteriovenous fistulas were not associated with cavopulmonary anastomoses or liver disease.     

Trichobezoar. A rare cause of recurrent upper abdominal pain]

Recurrent abdominal pain in a two years old toddler and a sixteen years old girl were caused by huge trichobezoars, which in one case had a weight of 412 g and provoked a gastric ulcus. Removal was possible only by gastrotomy. Deprivation in infancy and childhood in combination with slight mental retardation had led the teenager to trichtillomania and -phagia for years and finally to a bezoar. A short historic survey of the variety and therapy of bezoars is added.     

Idiopathic pulmonary hemosiderosis: a rare cause of iron-deficiency anemia in childhood

Idiopathic pulmonary hemosiderosis is a chronic, rare disorder confined to the lung, which is commonly characterized by the triad of recurrent hemoptysis, diffuse parenchyma infiltrates on chest radiography, and iron-deficiency anemia. Diagnosis may be difficult and the clinical course may be widely variable. Here, we describe an 8-year-old boy whose isolated symptom on presentation was iron-deficiency anemia. Presence of hemoptysis and bilateral alveolar infiltrates on chest x-ray led to the diagnosis of pulmonary hemosiderosis, subsequently confirmed by the finding of hemosiderin-laden macrophages by bronchoalveolar lavage. The patient was started on prednisolone 2 mg/kg/d and no further bleeding episodes were noted after the onset of therapy.     

Non-cardiac cyanosis: methemoglobinemia in infants]

Methemoglobinemia is a rare but easily diagnosed disease which may resemble cyanotic congenital heart disease. Toxic agents, mainly nitrate absorption, are often responsible and may reveal an underlying permanent or transient enzyme deficiency. Methemoglobinemia is of poor prognosis if secondary to hemoglobin disorders or congenital enzyme deficiency. Methylene blue is a good aid to diagnosis and a treatment of choice.     

May-Hegglin anomaly: A rare cause of thrombocytopenia

A family with four and an unrelated family with three individuals affected by the May-Hegglin anomaly are described. Platelet counts were markedly reduced and were correctly determined only in the counting chamber. Bleeding time and platelet aggregation were always normal, but platelet nucleotide concentrations (ATP and ADP) were elevated. The platelet glyco-protein complexes Ib/IX, IIb/IIIa and Ia/IIa were quantitatively normal. Platelet-associated IgG was slightly elevated, although thrombocytopenia was presumably not caused by an immunological mechanism. Morphological investigations showed giant platelets and spindle-shaped inclusion bodies in the granulocytes, while their function (phagocytic capacity, radical production) was normal. To exclude hereditary types of thrombocytopenia, morphological and family investigations are required to avoid misdiagnosis with far-reaching diagnostic and therapeutic consequences.     

Retroperitoneal arteriovenous malformation,a rare cause of heart failure in infancy: Consideration of therapeutic approaches

Summary We report an infant presenting with congestive heart failure secondary to a large retroperitoneal arteriovenous (AV) malformation. The heart failure was treated by catheter embolization of the feeding arterial vessels with Ivalon particles. Following resolution of the heart failure, a residual avascular mass remained. A biopsy revealed the diagnosis of an undifferentiated sarcoma that was successfully treated with chemotherapy and surgery.     

A rare cause of neonatal seizure: incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare genetic multisystem disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30% of cases with seizures and mental retardation. Seizures occurring as the presenting sign of IP are rarely reported. We report a case of a female newborn with IP who had seizures on day 4 of life, which were followed in her second month by the development of the characteristic cutaneous changes for IP. With this case report, we would like to emphasize the need for inclusion of IP in the differential diagnosis of neonatal seizures.