Lorenzo's Oil: Can It Really Treat ALD?
Congenital Intestinal Pseudo-obstruction Associated With A Giant Platelet Disorder
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MYH9-related Disorders: A Rare Cause Of Neonatal Thrombocytopaenia
Myosin heavy chain 9-related disorders (MYH9RD) are a genetic condition characterised by large platelets and thrombocytopaenia. The May-Hegglin anomaly (MHA), an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of MYH9RD.
There are very limited data on the clinical course and neonatal/paediatric outcome in children with MHA. We present the case of a newborn with a normal physical examination whose mother had MHA. Peripheral blood examination revealed a platelet count of 16×109/L with giant platelets and neutrophils containing Döhle bodies. Neonatal brain ultrasound examination showed no haemorrhage. The infant received three platelet transfusions during the first 29 days of life, remaining asymptomatic. The genetic molecular test was positive for MYH9RD. It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach.
Bipolar Disorder
The defining feature of bipolar disorder is mania. It can be the triggering episode of the disorder, followed by a depressive episode, or it can first manifest after years of depressive episodes. The switch between mania and depression can be abrupt, and moods can oscillate rapidly. But while an episode of mania is what distinguishes bipolar disorder from depression, a person may spend far more time in a depressed state than in a manic or hypomanic one.
Hypomania can be deceptive; it is often experienced as a surge in energy that can feel good and even enhance productivity and creativity. As a result, a person experiencing it may deny that anything is wrong. There is great variability in manic symptoms, but features may include increased energy, activity, and restlessness; euphoric mood and extreme optimism; extreme irritability; racing thoughts, unusually fast speech, or thoughts that jump from one idea to another; distractibility and lack of concentration; decreased need for sleep; an unrealistic belief in one's abilities and ideas; poor judgment; reckless behavior including spending sprees and dangerous driving, or risky and increased sexual drive; provocative, intrusive, or aggressive behavior; and denial that anything is wrong.
The duration of elevated moods and the frequency with which they alternate with depressive moods can vary enormously from person to person. Frequent fluctuation, known as rapid cycling, is not uncommon and is defined as at least four episodes per year.
Just as there is considerable variability in manic symptoms, there is great variability in the degree and duration of depressive symptoms in bipolar disorder. Features generally include lasting sad, anxious, or empty mood; feelings of hopelessness or pessimism; feelings of guilt, worthlessness, or helplessness; a loss of interest or pleasure in activities once enjoyed, including sex; decreased energy and feelings of fatigue or of being "slowed down"; difficulty concentrating, remembering, or making decisions; restlessness or irritability; oversleeping or an inability to sleep or stay asleep; change in appetite and/or unintended weight loss or gain; chronic pain or other persistent physical symptoms not accounted for by illness or injury; and thoughts of death or suicide, or suicide attempts.
The symptoms of mania and depression often occur together in "mixed" episodes. Symptoms of a mixed state can include agitation, trouble sleeping, significant change in appetite, psychosis, and suicidal thinking. At these times, a person can feel sad yet highly energized.
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