Hereditary Hemochromatosis: Early Detection of a Common Yet Elusive Disease

Although widely regarded as a rare disorder, hereditary hemochromatosis is the most common genetic disease in Caucasians. In certain populations of northern European descent, 1 of every 200 persons is homozygous for the causative mutation.1

Hereditary hemochromatosis is also the most common cause of primary iron overload.

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Schizophrenia-like psychosis and aceruloplasminemia


Schizophrenia-like illnesses occur in a variety of medical and neurological conditions but to date have not been described in association with aceruloplasminemia. Aceruloplasminemia is an autosomal recessive disorder of iron metabolism which leads to iron deposition in the basal ganglia, thalamus, cerebellum and hippocampus and which usually presents in middle age with extrapyramidal symptoms and dementia. We describe a 21-year-old woman on treatment for aceruloplasminemia who presented with schizophrenia-like psychosis and declining function in the absence of neurological signs. Neuropsychological testing showed significant dominant hemisphere deficits. Magnetic resonance imaging showed bilateral iron deposition in the cerebellar dentate nuclei and thalami, frontal atrophy, and periventricular white matter hyperintensities. Functional imaging suggested global hypoperfusion. The clinical, cognitive and imaging findings were not typical for either aceruloplasminemia or schizophrenia alone and the possible relationship between the two disorders is discussed with particular reference to implications for our understanding of schizophrenia.

Keywords: aceruloplasminemia, schizophrenia, psychosis
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Heavy Metal: Iron and the Brain

Emily Deans M.D.

Iron deficiency is the most common nutritional problem in the world, affecting at least 2.5 billion people. In developing countries, as many as 40% of young children and 50% of pregnant women are deficient. Iron is a prevalent mineral, making up 5% of the earth’s crust, but a combination of inefficiency in absorption, poor iron in certain staple grain foods, and medical conditions make low iron levels a frequent occurrence among humans. Even in first world countries, iron is the most common nutrient deficiency.

Low iron intake and accelerated iron loss (generally through bleeding or breastfeeding) are the main causes of iron deficiency. Therefore pregnant women, breastfeeding women, women with heavy periods, children and other folks who are picky eaters, vegetarians and vegans, and anyone with digestion issues causing reduced absorption (such as celiac disease or post gastric bypass) or increased bleeding (such as cancer, ulcers, gastritis, or parasites) are at higher risk for iron deficiency. High intake of calcium (for example in kids who drink a ton of milk) can interfere with iron absorption as well, along with commonly used medications such as antacids and proton-pump inhibitors for gastroesophageal reflux disease.

While we are used to thinking of low iron levels as causing anemia due to red blood cells’ requirement for iron as a part of hemoglobin, iron is also desperately needed for the nerves and brain. Severe iron deficiency in young children can cause irreversible damage to cognition and result in lower IQ and developmental delays, particularly during a critical period of human development in utero and up to 16 months of age.

Even in adults the first symptoms of iron deficiency are often neurologic, as those affected will frequently complain of fatigue, brain fog, and also restless legs causing insomnia. Pica, the odd behavioral compulsion to eat nonnutritive foods such as dirt or clay, is extremely common in areas of the world where iron deficiency is prevalent. In the developed world, pica is rare but still occurs in children, pregnant women, and among other groups at higher risk for iron deficiency including those who have had gastric bypass. Non-neurologic symptoms of iron deficiency include pallor, generalized weakness, and higher than usual heart rate along with shortness of breath, particularly with exertion.

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Association between psychiatric disorders and iron deficiency anemia among children and adolescents: a nationwide population-based study



A great deal of evidence has shown that iron is an important component in cognitive, sensorimotor, and social-emotional development and functioning, because the development of central nervous system processes is highly dependent on iron-containing enzymes and proteins. Deficiency of iron in early life may increase the risk of psychiatric morbidity.


Utilizing the National Health Insurance Database from 1996 to 2008, children and adolescents with a diagnosis of IDA were identified and compared with age and gender-matched controls (1:4) in an investigation of the increased risk of psychiatric disorders.


A total of 2957 patients with IDA, with an increased risk of unipolar depressive disorder (OR = 2.34, 95% CI = 1.58 ~ 3.46), bipolar disorder (OR = 5.78, 95% CI = 2.23 ~ 15.05), anxiety disorder (OR = 2.17, 95% CI = 1.49 ~ 3.16), autism spectrum disorder (OR = 3.08, 95% CI = 1.79 ~ 5.28), attention deficit hyperactivity disorder (OR = 1.67, 95% CI = 1.29 ~ 2.17), tic disorder (OR = 1.70, 95% CI = 1.03 ~ 2.78), developmental delay (OR = 2.45, 95% CI = 2.00 ~ 3.00), and mental retardation (OR = 2.70, 95% CI = 2.00 ~ 3.65), were identified. A gender effect was noted, in that only female patients with IDA had an increased OR of bipolar disorder (OR = 5.56, 95% CI = 1.98 ~ 15.70) and tic disorder (OR = 2.95, 95% CI = 1.27 ~ 6.86).


Iron deficiency increased the risk of psychiatric disorders, including mood disorders, autism spectrum disorder, attention deficit hyperactivity disorder, and developmental disorders. Further study is required to clarify the mechanism in the association between IDA and psychiatric disorder.

Keywords: Iron deficiency anemia, Psychiatric disorders, Comorbidity


According to the World Health Organization, iron deficiency (ID) is the most prevalent nutritional deficiency. A 30% prevalence of iron deficiency anemia (IDA), at a minimum, has been noted among children, adolescents, and women in non-industrialized countries, and ID is also the most prevalent nutritional deficiency in industrialized countries [14]. ID, defined by two or more abnormal measurements (serum ferritin, transferrin saturation, erythrocyte protoporphyrin), is insidious and uneasily detected by patients themselves and may not develop significant clinical symptoms [14]. IDA is characterized by a defect in hemoglobin synthesis owing to significant ID, resulting in the reduced capacity of the red blood cells to deliver oxygen to body cells and tissues, and many clinical symptoms, such as pale conjunctiva, shortness of breath, dizziness, and lethargy [14]. The main risk factors for IDA and ID include a low intake of iron, poor absorption of iron from diets, chronic loss of iron (i.e., ulcer, metrorrhagia), and some specific periods of life when iron requirements are especially high, such as growth and pregnancy [14].

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Anti-NMDA receptor encephalitis presenting as an acute psychotic episode misdiagnosed as dissociative disorder: a case report

  • Yuichiro ShimoyamaEmail author,
  • Osamu Umegaki,
  • Tomoyuki Agui,
  • Noriko Kadono and
  • Toshiaki Minami
JA Clinical Reports20162:22

DOI: 10.1186/s40981-016-0048-3

Received: 17 June 2016

Accepted: 26 August 2016

Published: 1 September 2016



In 2005, “anti-N-methyl-d-aspartate (NMDA) receptor encephalitis,” a syndrome with prominent psychiatric symptoms, memory loss, decrease in level of consciousness, and central hypoventilation, was described in young women with ovarian teratomas and antibodies against an antigen highly expressed in the hippocampus. This report highlights the growing need for increased awareness among psychiatrists and other relevant medical professionals about this under-diagnosed disorder, which should be considered in differential diagnoses.

Case presentation

A 19-year-old female with no psychiatric history presented to a district general hospital with acute psychosis, emotional lability, memory deficit, fluctuating behavioral changes such as wandering and babbling, and seizure. She was admitted to the hospital with a provisional diagnosis of dissociative disorder. Soon after admission, she developed aspiration pneumonia and was intubated for mechanical ventilation. She was transferred to our hospital for further assessment and admitted to the intensive care unit for ventilation. Laboratory test results were unremarkable, but her EEG showed non-specific slowing with no epileptiform activity, and brain computed tomography (CT) and MRI also showed no remarkable findings. Cerebrospinal fluid (CSF) analysis showed an elevated white blood cell count (15 cells/hpf; 70 % lymphocytes), and blood serum and CSF samples tested positive for NMDA receptor antibodies. Abdominal contrast-enhanced CT revealed an ovarian teratoma, which was subsequently removed laparoscopically. Postoperative immunotherapy (steroids, intravenous immunoglobulin, and plasmapheresis) led to gradual improvement. On day 25 of hospitalization, neuropsychological assessment demonstrated that overall, she had returned to her premorbid level of functioning. Her condition substantially improved over several months of cognitive rehabilitation, and she was eventually discharged on day 75.


Anti-NMDA receptor encephalitis, a form of autoimmune encephalitis, is commonly associated with tumors and often misdiagnosed. Diagnosis can be confirmed by detecting NMDA receptor antibodies in the patient’s serum or CSF. Management can be achieved with immunosuppressive therapy and tumor resection.

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A Case of Conversion Catatonia Misdiagnosed for 24 Years

Pauline K. Wiener, M.D.

INTRODUCTION Catatonia is a syndrome whose etiology may be both diverse and difficult to substantiate . Ms. H. is a 45-year-old black female with 18 previous psychiatric hospitalizations beginning at age 21 . A common characteristic to all hospitalizations was a catatonic presentation (i.e ., the patient was mute with marked muscular rigidity; she would refuse to eat or follow orders). In ea ch of her previous 18 hospitalizations, the patient was thought to be psychotic. It was found that each catatonic episode could be related to a severe psychological stressor. The patient’s illness never involved delusions, hallucinations or disturbances in thought form. Upon detailed evaluation of this patient’s history she was found to have symptoms consistent wit h conversion disorder. I report here the identification of a conversion disorder presenting as recurrent episodes of catatonia. Intramuscular lorazepam was found to be repeatedly successful in resolving the ca tatonic state .

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Some cases of schizophrenia and bipolar disorder could be misdiagnosed immune disorders

Some patients sectioned with conditions such as schizophrenia or bipolar disorder could instead have a treatable immune disorder, Oxford University scientists have found.

Currently, people experiencing psychosis are often thought to be suffering from mental disorder and are treated as such with medication and psychotherapy.

But the research, published yesterday in the Lancet psychiatry journal, suggests that some of these patients could in fact be treated with immunosuppressant drugs.

Scientists studied 228 patients who had visited mental health service sites across England having experienced psychosis for the first time.

They took blood samples from each of the patients and found that three per cent of them had antibodies that attack the NMDA receptor, which allows brain cells to communicate with each other.

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Mom Misdiagnosed With Postpartum Psychosis After Childbirth When She Really Had Autoimmune Diseases and Multiple Sclerosis

My name is Kimberly and my story begins in 1978. I woke up one morning, unable to move my legs or left arm and unable to get out of bed. At the time, I was only 18 years old. I went to the hospital, was admitted for a week, and aside from my psoriasis, was discharged without a diagnosis.

As weeks went by, I continued to worsen. I developed red raised nodules on the shins of my legs. They were warm to the touch and very painful. The doctors were baffled and again sent me home without a diagnosis.

After a few weeks of horrific pain, my father carried me into a different hospital, where I was admitted with concern from the doctors there may have been fluid build-up in my ankles and I would never walk again.  Fortunately, there was no fluid. I spent a week in the hospital only to have them discharge me with a diagnosis of Sarcoidosis and Erthema nodosum. They thought it could have also been polio or rheumatic fever, and so I spent six months in a wheelchair. I was given a final diagnoses of psoriasis, sarcoidosis, Erthema nodosum, and lupus. Along with receiving steroid injections in my ankles, I took liquid painkillers just to be able to walk and function.

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Misdiagnosed bipolar: One girl’s struggle through psych wards before Stanford doctors make bold diagnosis and treatment

SAN JOSE — One day, Tessa Gallo was a typical sixth-grader, performing in school plays, running on the track team, goofing around with her two sisters and giggling with girlfriends at sleepovers.

The next, said her mother, Teresa, “She was psychotic and mentally retarded.”

In bizarre and frightening scenes, Tessa acted as frantic as a caged animal, darting out of the family car into traffic, jumping fences and hiding in neighbors’ bushes. At times she seemed catatonic, with food falling out of her mouth because she somehow couldn’t swallow. She repeated the same few sentences over and over, worried about her braces, wanting to go home.

And finally, she said nothing at all. For nine months, Tessa stopped talking. Not a word.

Doctors diagnosed her with bipolar disorder, prescribed psychiatric drugs that didn’t work and sent the San Jose family on a nightmarish odyssey through psych wards, group homes and isolation rooms.

Then, suddenly, more than 10 months into the Gallos’ terrifying ordeal, a pair of Stanford University doctors told the family that Tessa wasn’t bipolar at all. She was probably suffering from a tragically misdiagnosed condition that mimics mental illness in a way doctors are only starting to understand.

“I’ve seen cases like this before,” Dr. Jennifer Frankovich of Lucile Packard Children’s Hospital told the Gallos. “I think I can bring her back.”

Controversial diagnosis

What Frankovich, a pediatric rheumatologist, and Dr. Kiki Chang, a child psychiatrist, concluded was that Tessa likely had an infection or other trigger that caused her immune system to mistakenly attack her brain, dramatically changing Tessa’s behavior overnight. It’s a condition called PANS — pediatric acute-onset neuropsychiatric syndrome — that in some cases, if caught early enough, could be cured by commonly used antibiotics. Without early treatment, they say, children can suffer needlessly.

It would take a mother’s stubborn devotion and the conviction of two doctors willing to stake their reputation on a controversial treatment to bring Tessa back from the brink. At the same time, they believe cases like Tessa’s could help unlock the mysteries of the brain and reveal how something as common as an infection could be behind a growing number of psychological disorders.

PANS is so new and so misunderstood, that there are no reliable estimates of how many children are affected. A national PANS parent support group believes the number nationwide could be more than 150,000, or about a quarter of the children who have obsessive compulsive disorder or other tics.

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