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16 Possible Causes for Microcytic Anemia, Prominent Sulci

  • Pyridoxine Dependency Syndrome

    C T scan showed prominent cerebral sulci and interhemispheric fissure but n o anomalies or calcification.[] […] paralysis, convulsions, severe microcytic anemia, and poor feather development. 1%, pyridoxine deficiency (detected on clinical response) 1.[] While this may be correct in some cases, P5P deficiency can also cause microcytic anemia.[]

  • Combined Oxidative Phosphorylation Defect Type 11

    Anemia 1 Microphthalmia Syndromic 3 9 Microphthalmia Syndromic 5 5 Microphthalmia Syndromic 6 2 Microphthalmia Syndromic 7 1 Microphthalmia Syndromic 9 1 Microphthalmia With[] Epilepsy, And Diabetes Syndrome 1 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 1 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1 Microcytic[]

  • Citrullinemia Type 2

    B, Contrast-enhanced axial CT scan shows prominent cingulate gyri atrophy and ulegyric changes in the frontal lobes.[] By one year of age, some children may show a mild microcytic anemia.[] Microcytic anemia: - Iron deficiency, thalassemia, sideroblastic anemia (defect in heme synthesis leads to accumulation of iron in mitochondria around nucleus of developing[]

  • Autosomal Recessive Pachydermoperiostosis 

    WORK UP Haemogram : Microcytic Hypochromic Anemia Lymphocytosis ESR – 28 mm/hr RFT – Normal LFT – ALP elevated GTT – Normal TSH – Normal VDRL – Non – Reactive.[] […] the sulci and gyri of brain.[] Sometimes, the scalp takes on an undulating appearance and shows prominent grooves, the appearance being referred to as cutis verticis gyrata because of its resemblance to[]

  • Kwashiorkor

    , prominence of basal cisterns, and ventricular dilation resulting in cerebral atrophy, as well as periventricular white matter (PVWM).[] Thus, anemia is usually present, most often hypochromic microcytic anemia, but a concurrent deficiency of folates may lead to a mixed microcytic-macrocytic anemia.[] The results of the laboratory evaluation were unremarkable except for microcytic anemia, low albumin and total protein levels, and mildly elevated liver transaminase levels[]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    sulci and fissures, subcortical cystlike lesions shown on T1-weighted images, and hyperintense lesions at the periventricular white matter shown on T2-weighted images ( 5[] microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late[] Neuroimaging studies, such as MR imaging, may have helped to evaluate brain damage in patients with BH4 deficiency, such as symmetrical calcifications in the lentiform nuclei, prominent[]

  • Beta-Ureidopropionase Deficiency

    MRI at 2 years showed dilated ventricles, prominent cortical sulci and incomplete myelination.[] (AA) Atransferrinemia Scott syndrome Thiamine-responsive megaloblastic anemia (TRMA) Hypochromic microcytic anemia Plasminogen deficiency Rh-null hemolytic anemia (RHN) Bleeding[] anemia-panniculitis-associated lipodystrophy syndrome Joubert syndrome Joubert syndrome type A Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic[]

  • Microcephalic Primordial Dwarfism Type Alazami

    Microcornea-myopic chorioretinal atrophy- telecanthus syndrome 14 Cases 231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 8 Cases 83642 Microcytic[] Head MRI showed prominent sulci and abnormal T2 prolongation in the cerebral white matter and brainstem.[] Though a number of individuals in the Saudi cohort exhibited microcytic anemia and the Canadian proband exhibited borderline anemia, these could be due to environmental factors[]

  • Conductive Deafness - Ptosis - Skeletal Anomalies Syndrome

    Brain imaging has revealed large ventricles, with subcortical hypomyelination, a thin corpus callosum, and prominent cortical sulci.[] […] hemolytic anemia, hepatosplenomegaly, jaundice, sometimes bone changes, loss of 3 alleles (may require blood transfusions) Hb BARTS: hydrops fetalis, severe anemia, death[] […] typically asymptomatic, loss of 1 allele Alpha Thal Trait: Low MCV and MCH, loss of 2 alleles (knowing if mutations are in CIS or TRANS is helpful for recurrence risk) HbH: microcytic[]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Other non-specific neurological abnormalities include absent corpus callosum, prominent cortical sulci, cavum septum pellucidum and cavum velum interpositi [ 17 ].[] Failure to thrive Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Microcytic anemia Mandibular prognathia Severe hydrops fetalis Intractable[] Minor neuroimaging anomalies are frequently found in Sotos syndrome: prominence of the trigone in 90% of cases, prominence of the occipital horns in 75% and ventriculomegaly[]

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