Infantile tremor syndrome: Case report

Infantile tremor syndrome (ITS) is a very rare disease with an incidence of <0.2% in India. Affecting children are around 1 year of age and characterized by developmental delay, skin pigmentation, and coarse tremors. Studies since 1990 conclude that ITS is caused by nutritional deficiencies, most prominently of Vitamin B12. Since lactating mothers from a poor socioeconomic background in regions where vegetarianism is prevalent because of cultural reasons are most likely to be deficient in Vitamin B12, the syndrome is most likely to affect this segment. The case described herein is unique because it is from Mangalore in India which is a coastal town with very low levels of vegetarianism. A 14-month-old girl presented with fever, vomiting, and loose stools coupled with abnormal movements of eyes, tongue, and hands which were coarse, rhythmic, continuous of low amplitude, present throughout the day, and absent during sleep. Although initial suspicions were of seizures and the patient was administered anti-epileptics, there was no improvement in the condition of the patient. On suspicions of symptoms being of ITS, an MRI-brain was done which showed diffuse mild loss of white matter. Consequently, blood investigations showed macro-to-microcytic hypochromic anemia. Thereafter, the child was started on injectable B12 supplementation and propanolol at 0.5 mg/kg/day for tremors. The child responded well clinically.

An Adaptation of the Profile of Mood States for Use in Adults With Phenylketonuria

Abstract Adults with phenylketonuria (PKU) experience disturbances in mood. This study used qualitative and quantitative techniques to adapt the 65-item Profile of Mood States (POMS) for the assessment of key mood domains in adults with PKU. First, cognitive interviews on 58 POMS items (excluding 7 Friendliness domain items) among 15 adults and adolescents (age ≥16 years) with PKU were conducted to eliminate items poorly understood or considered irrelevant to PKU; 17 items were removed. Next, the remaining POMS items were quantitatively examined (Mokken scaling and Rasch analysis) in 115 adult patients with PKU. An additional 21 items were removed iteratively, resulting in the 20-item draft PKU-POMS. Finally, the psychometric properties of the draft PKU-POMS were examined. The instrument displayed strong psychometric properties (reliability, validity, and responsiveness) over 6 domains (Anxiety, Depression, Anger, Activity, Tiredness, and Confusion) and all items were well understood in the final cognitive interviews with 10 adults with PKU.

Assessing the Content Validity of the Investigator-Rated ADHD Rating Scale Version IV Instrument Inattention Subscale for Use in Adults With Phenylketonuria

Abstract Content validity of the 18-item Investigator-Rated Attention-Deficit Hyperactivity Disorder (ADHD) Rating Scale IV (I-ADHD RS-IV) with adult prompts was investigated using qualitative interviews of US clinicians who had prior experience rating adults with phenylketonuria (PKU) using the I-ADHD RS-IV. Fourteen qualitative interviews were conducted to obtain key symptom experiences of adults with PKU and assessed the relevance, clarity, and administration of the I-ADHD RS-IV. Participants (n = 13, 92.9%) endorsed the inattention symptoms as key experiences by adults with PKU and endorsed the instrument as fit for purpose for adults with PKU. Participants generally reported low frequencies of occurrence for the 9 I-ADHD RS-IV hyperactivity/impulsivity items. Despite some clinicians' concerns for the lack of patient self-awareness, the participants reported no difficulty selecting a rating on these items. This in-depth study of the content validity of the I-ADHD RS-IV provides evidence that this clinician-reported instrument captures the severity of important inattention symptoms in adults with PKU.

rare case of Bochdalek diaphragmatic hernia with concomitant partial situs inversus.

Congenital diaphragmatic hernias clinically presenting in adulthood are exceedingly rare lesions, mainly left-sided defect (Bochdalek). Bochdalek hernias most commonly manifest during the patient’s first few weeks of life. Diagnosis beyond the first 8 weeks of life is estimated to represent 5-25% of all Bochdalek hernias. Here we have a 32 year old female patient who presented with 10x10 cm diaphragmatic hernia with dextrocardia who was asymptomatic for years.