Fabry disease (Angiokeratoma corporis diffusum) is an X-linked lysosomal disorder which occurs due to deficiency or absence of alpha-galactosidase A (α-GAL A) activity as a result of a genetic mutation in the GLA gene. As Fabry’s disease follows X-linked genetics it manifestis predominantly in men. Ongoing burning, tingling pain and discomfort, known as acroparesthesia, mainly affecting the hands and feet is the most debilitating symptom in childhood.

Alopecia areata is seen in 6-8.8% of patients with Down syndrome, but only 0.1% of patients with alopecia areata have Down syndrome. The high frequency of alopecia areata in patients with Down syndrome suggests that a genetic linkage for alopecia areata may exist on chromosome 21.

This clinical presentation is highly suggestive of choking. According to the BLS algorithm, the next step in managing a case of choking in a conscious child with an ineffective cough is five back blows.Other options:- Adrenaline intramuscularly: The history is similar to anaphylaxis, but the absence of a rash or oedema and the acute onset make choking more likely in this situation. Thus, adrenaline will not be of use in this patient.- CPR at a ratio of 15:2: Since the child is conscious, it is not advised. If the child were unconscious, you would commence basic life support.- Five abdominal thrusts: In the given scenario, the child is an infant. Abdominal thrusts are avoided in infants due to the risk of intra-abdominal injury.

Although WPW syndrome is a type of supraventricular re-entrant tachycardia, CCBs are contraindicated in its management. This is because CCBs depress AVN conduction; the current then passes through the accessory pathway (bundle of Kent) instead, causing ventricular tachycardia.

While the results of this before and after study can provide some preliminary insight into the effects of the dietary intervention, the results should be viewed with great caution as they may be considered merely anecdotal. The lack of a control group contributes to confounding the data. Therefore, while the difference may be statistically significant and the confidence interval is compatible with a fall in the number of seizures after therapy, the results cannot be introduced as the standard without a control group to compare with.

3-year-old milestonesSocial and EmotionalCopies adults and friends Shows affection for friends without prompting Takes turns in games Shows concern for crying friend Understands the idea of mineť and hisť or hersť Shows a wide range of emotions Separates easily from mom and dad May get upset with major changes in routineDresses and undresses self Language/CommunicationFollows instructions with 2 or 3 steps Can name most familiar things Understands words like in,ť on,ť and underť Says first name, age, and sexNames a friend Says words like I,ť me,ť we,ť and youť and some plurals (cars, dogs, cats) Talks well enough for strangers to understand most of the time Carries on a conversation using 2 to 3 sentences Cognitive (learning, thinking, problem-solving)Can work toys with buttons, levers, and moving parts Plays make-believe with dolls, animals, and people Does puzzles with 3 or 4 pieces Understands what twoť means Copies a circle with a pencil or crayon Turns book pages one at a time Builds towers of more than 6 blocks Screws and unscrews jar lids or turns the door handle Movement/Physical DevelopmentClimbs well Runs easily Pedals a tricycle (3-wheel bike) Walks up and downstairs one foot on each step

USG of the scrotum is important to exclude any abnormality with testicles, epididymis and scrotum. This presentation can be acute epididymo-orchitis or testicular torsion. USG of the scrotum will help to confirm the diagnosis.

Drug withdrawal symptoms after a period of substance abuse can lead to a range of symptoms. Amphetamines are known to cause hypersomnia, hyperphagia, and irritability, as well as vivid dreams as a result of withdrawal. Similar symptoms are found in cocaine withdrawal. Alcohol withdrawal presents with symptoms such as insomnia, tremulousness and delirium. Ecstasy withdrawal includes irritation, mood swings, fatigue and insomnia. Heroin withdrawal presents with symptoms which include dilated pupils, insomnia, abdominal cramps and muscle aches. Withdrawal from prolonged cannabis use can cause depression, anxiety restlessness and insomnia.

Answer: LaparoscopyThe diagnostic accuracy of laparoscopy for impalpable testis is well recognized. Approximately 20% of undescended testes are truly impalpable, and laparoscopy is actually regarded as the gold standard for their localization; none of the currently available imaging techniques (ultrasound, computerized tomography, or magnetic resonance imaging) has proven to be 100% reliable in predicting the presence or absence of a testis.In this respect, not only can laparoscopy be considered the most reliable tool to provide information on the location of the testis but also to confirm its absence.Undescended testes in boys is a very common congenital abnormality in which one or both testes does not reach the bottom of the scrotum prior to birth. The incidence of the condition is 3-5% among all boys at birth, and decreases to 0.8-1% after 6 months of age.Males with undescended testes have a lower sperm count, poorer quality sperm, and lower fertility rate, compared to males whose testicles descend normally; the rate of subfertility increases with bilateral involvement and increasing age at the time of orchidopexy.

Diazepam given rectally may be helpful in treating prolonged convulsions outside and within hospital when intravenous injection is not possible. A rectal dose of 0.5 mg/kg (maximum 10 mg) of injectable diazepam, undiluted or diluted with a 50% propylene glycol solution, can stop seizures in up to 80% of children. There are few adverse reactions. Seizures in children usually cease spontaneously within 5-10 minutes and are rarely associated with significant sequelae. The chance of a seizure stopping spontaneously decreases significantly after 10-15 minutes. Similarly, the efficacy of anticonvulsant medication decreases after 10-15 minutes of fitting and the risk of adverse effects increases. Convulsive seizures lasting longer than 30 minutes constitute status epilepticus and may be complicated by cardio respiratory depression and brain injury. Diazepam or clonazepam, given intravenously, is generally the drug of choice for the emergency treatment of convulsive status epilepticus. Intravenous diazepam may be difficult to administer to the young convulsing child and, because of the need for intravenous access, is not ideal for rapid treatment in the community by non-medical carers.