Continuing hyperbilirubinaemia and occasional splenomegaly lead to a suspicion of a ‘leaky erythrocytes’. [endocrine-abstracts.org]

Gall stones and splenomegaly 6. [ihaematology.com]

(one in...) northern euros incidence 1 in 5000 Symptoms of Sphero J S ________of varying degrees Jaundice splenomegaly Anemia of varying degrees Sphero Hemolytic crisis usually not __________ Children after ______ infection Usually not severe children [quizlet.com]

Dehydrated hereditary stomatocytosis has been mapped to 16q23-qter.46 CLINICAL FEATURES Patients may present with compensated hemolytic anemia, jaundice, splenomegaly, and gallstones. [medtextfree.wordpress.com]

Splenomegaly and cholelithiasis with bilirubin gallstones are common. Signs and symptoms date from birth, though they may be overlooked for years, or even decades in the milder variants. [cancertherapyadvisor.com]

An increase of the leak underlies the hereditary stomatocytoses, a group of rare hemolytic anemias, and familial pseudohyperkalemia (FP). [yumpu.com]

Hemolytic anemia is improved by splenectomy. [medtextfree.wordpress.com]

[…] dominant fashion, macrocytic hemolytic anemias and hemolytic anemias with similar red cell morphology. [cancertherapyadvisor.com]

[…] develop a hemolytic anemia with acanthocytosis called spur cell anemia. [doctorlib.info]

The patient presented aged 1 day with jaundice and hypoglycaemia, and was treated for presumed sepsis. Plasma K -concentration was reported to be 8 mmol/l. [endocrine-abstracts.org]

Splenectomy § No evidence that laparoscopic is superior to open Indications a) S evere disease should try and defer until age 6 as risk of sepsis if possible (pa r tial splenectomy can be performed in those b) Moderate disease considered (reduced exercise [ihaematology.com]

Splenectomy is beneficial in severe cases, and after this procedure the hemoglobin level usually increases enough to reduce or eliminate the need for transfusion. 73 Splenectomy, however, results in a lifelong increased risk of sepsis by encapsulated [doctorlib.info]

Thus, the general group of dominantly inherited conditions with which we are concerned here fall under the general title hereditary stomatocytoses and allied disorders.' [the-medical-dictionary.com]

Stewart identified that a crucial feature in diagnosis is the dependence of the increased sodium-potassium permeability as temperature falls. [impact.ref.ac.uk]

Others There are other families that do not fall neatly into any of these classifications. That described by Oski is one such (Oski et al, 1969). Also, Jarvis et al 2001. [ucl.ac.uk]

Detailed history with regards to differential diagnosis of fatigue, weight loss, fever, headache, dizziness, and malaise 3. [docplayer.net]

The key signs and symptoms are those of all hemolytic anemias: jaundice, pallor, fatigue, splenomegaly, gallbladder disease, and susceptibility to an aplastic crisis following infection with parvovirus B19. [cancertherapyadvisor.com]

[…] splenic, renal veins Portal hypertension Cerebral vein thrombosis Retinal vein thrombosis and loss of vision Deep vein thrombosis, pulmonary emboli Arterial thrombosis (less common) Stroke Myocardial infarction Related to bone marrow failure Pancytopenia: fatigue [doctorlib.info]

This causes the characteristic neurological symptoms (seizures, mental retardation, and movement disorders). The hemolysis and cataracts appear to be due to the altered cation permeability of the mutant channel. [cancertherapyadvisor.com]

disorders), peripheral neuropathy, myopathy, and neuropsychiatric manifestations. 46, 47 Some female heterozygote carriers may have acanthocytes, but neurologic symptoms are rare. [doctorlib.info]

The patient presented aged 1 day with jaundice and hypoglycaemia, and was treated for presumed sepsis. Plasma K -concentration was reported to be 8 mmol/l. [endocrine-abstracts.org]

Neonatal jaundice and anaemia § May need transfusions for the first year of life (can then become transfusion independent since erythropoietic drive poor during first year of life). § Epo may be of benefit 2. [ihaematology.com]

Positive family history A careful family history should be taken, looking for anemia, splenectomy, jaundice, early gallbladder disease, transfusion, neonatal jaundice or edema, hyperkalemia, iron overload, iron chelation therapy, or thromboembolic disease [cancertherapyadvisor.com]

(one in...) northern euros incidence 1 in 5000 Symptoms of Sphero J S ________of varying degrees Jaundice splenomegaly Anemia of varying degrees Sphero Hemolytic crisis usually not __________ Children after ______ infection Usually not severe children [quizlet.com]

There was no jaundice or anaemia. [the-medical-dictionary.com]

Investigation suggested normokalaemia when samples were assayed immediately and therefore ‘pseudo-hyperkalaemia’. Continuing hyperbilirubinaemia and occasional splenomegaly lead to a suspicion of a ‘leaky erythrocytes’. [endocrine-abstracts.org]

Hemoglobin and hematocrit values are often normal, despite evidence for mild to moderate hemolysis, suggesting that patients are physiologically more anemic than the numbers suggest. [cancertherapyadvisor.com]

Biological context of STOM There is also evidence that stomatin is linked to the cortical actin cytoskeleton, suggesting a role in cortical morphogenesis of the cell [8]. [wikigenes.org]

It has been suggested that vitamin E deficiency is the primary stimulus for secondary manifestations of the disease such as neuropathy. [medtextfree.wordpress.com]

Studies showed that this net K loss from the red cell did not occur at 37degC, and a simple temperature effect was suggested. The presence of this effect in three other unrelated families studied recently by us is illustrated in Figure 1. [the-medical-dictionary.com]

We describe a child with a stomatocytosis due to a SLC2A1 mutation presenting with hyperkalaemia, liver disease, microcephaly, nystagmus, and seizures. [endocrine-abstracts.org]

Seizures occur spontaneously but may be precipitated by multiple factors, including emotional, intellectual, or metabolic. The main feature of absence seizures is loss of responsiveness with cessation of ongoing activity. [centogene.com]

[…] plus, Migraine, familial hemiplegic SCN1B Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus SCN2A Epileptic encephalopathy, early infantile, Seizures, benign familial infantile SCN8A Cognitive impairment, Epileptic [genda.com.ar]

[…] syndrome Chronic granulomatous disease Noonan syndrome Adult-onset proximal spinal muscular atrophy, autosomal dominant Childhood absence epilepsy Chronic mucocutaneous candidiasis Encephalopathy due to GLUT1 deficiency Epilepsy with myoclonic-astatic seizures [csbg.cnb.csic.es]

In patients with HC type 2, seizures and other neurological complications are an important part of the disorder. [cancertherapyadvisor.com]

We describe a child with a stomatocytosis due to a SLC2A1 mutation presenting with hyperkalaemia, liver disease, microcephaly, nystagmus, and seizures. [endocrine-abstracts.org]

The child continued to have conjugated hyperbilirubinaemia; a liver biopsy suggested non-specific hepatitis. She developed abnormal movements, nystagmus and microcephaly; EEG was normal but MRI showed periventricular calcifications. [endocrine-abstracts.org]