Original Investigations 62 Downloads 42 Citations Abstract A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. [link.springer.com]

Infants with HFM and recurrent infections may die in early infancy, prior to diagnosis. Leukopenia can be a consequence of untreated severe folate deficiency [ Malatack et al 1999, Takeda et al 2002, Zhao et al 2007, Borzutzky et al 2009 ]. [ncbi.nlm.nih.gov]

Findings include poor feeding, failure to thrive, and anemia. [ncbi.nlm.nih.gov]

Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures [books.google.com]

Neurologic features include developmental delays, cognitive and motor impairment, behavioral abnormalities, ataxia and other movement disorders, peripheral neuropathy, and seizures. [ncbi.nlm.nih.gov]

The work is divided into two parts: The first covers gastroentero logical signs and symptoms in childhood, from acute abdominal pain to constipation, to vomiting, to abdominal mass. [books.google.com]

Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case [books.google.com]

Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An [books.google.com]

Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle [books.google.com]

[…] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark [books.google.com]

Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability [books.google.com]

[…] iron, folic acid or vitamin B12 Blood disorders such as sickle cell anemia and thalassemia, or cancer Aplastic anemia, a condition that can be inherited or acquired G6PD deficiency, a metabolic disorder Anemia can make you feel tired, cold, dizzy, and irritable [icdlist.com]

Megaloblastic anemia : mostly asymptomatic; possibly symptoms of weakness and cardiopulmonary impairment Neurologic symptoms Subacute combined degeneration of the spinal cord : symmetrical paresthesias of the extremities, ataxia, weakness, spasticity Irritability [amboss.com]

Symptoms may include: Abnormal paleness or lack of color of the skin Decreased appetite Irritability Lack of energy or tiring easily (fatigue) Diarrhea Difficulty walking Numbness or tingling in hands and feet Smooth and tender tongue Weak muscles The [chw.org]

Some of the most common symptoms of megaloblastic anemia include: Abnormal paleness or lack of color of the skin Decreased appetite Irritability Lack of energy or tiring easily (fatigue) Diarrhea Difficulty walking Numbness or tingling in hands and feet [chop.edu]

Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. [link.springer.com]

Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood. 1969;34:452–65. PubMed Google Scholar 4. Lanzkowsky P. Congenital malabsorption of folate. Am J Med. 1970;48:580–3. [doi.org]

Lanzkowsky P, Erlandson ME and Bezan AI (1969) Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood 34: 452–465. [els.net]

"Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification". Blood. 34 (4): 452–65. PMID 4980683. a b Poncz, M; Colman, N; Herbert, V; Schwartz, E; Cohen, AR (January 1981). [en.wikipedia.org]

"Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency". Epileptic Disorders. 16 (1): 88–92. doi : 10.1684/epd.2014.0629. [en.wikipedia.org]

Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. [ncbi.nlm.nih.gov]

Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

Steinschneider M, Sherbany A, Pavlakis S, et al. (1990) Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology 40: 1315. Su PC (1976) Congenital folate deficiency. [els.net]

Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology. 1990; 40 :1315. [ PubMed : 2381546 ] Su PC. Letter: congenital folate deficiency. [ncbi.nlm.nih.gov]

Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

Signs and symptoms [ edit ] Affected infants present within a few months after birth with failure to thrive and severe folate deficiency manifested as macrocytic anemia and developmental delays. [en.wikipedia.org]

anemia Subacut combined degeneration of sp.cord Folic acid Vit B (general) Cheliosis, glossitis,A.stomatitis, Acrodermatitis Iron Microcytic anemia Ca & Vit D Osteomalacea (bone pain,pathologic#), Tetany Vit A Follicular hyperkeratosis, Night blindness [slideplayer.com]

The megaloblastic effect is characterized by an aregenerative macrocytic anemia with nuclear dysmaturity, where the nucleus appears immature relative to the cytoplasm because of impaired DNA synthesis. See image below. [emedicine.medscape.com]

• folate and B-12 malabsorption result in macrocytic anemia. • Patients with abetalipoproteinemia develop retinitis pigmentosa and ataxia because of chronic fat-soluble vitamin malabsorption and deficiency (vitamins A and E). [slideshare.net]

Konstam G (1947) A case of steatorrhea with tetany, osteomalacia and macrocytic anemia. West Lond MED J 52: 14 16. Garrod O (1958) Coeliac dwarfism with anemia and osteomalacia. Proc R Soc Med 51: 722-723. [omicsonline.org]