H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome.

Hypokalemic periodic paralysis (HPP) is a reasonably rare condition, presenting complains being those associated with acute systemic weakness and hypokalemia. Majority of the cases are characterized as familial or primary, whereas sporadic cases are associated with various other conditions such as barium poisoning, hyperthyroidism, renal disorders, endocrinopathies and gastrointestinal potassium losses. We report a unique case in a 5-year-old female child following gastrointestinal losses (vomiting and diarrhea). According to the patient's mother, for the past 2 days, she was lethargic, unable to walk and hold the neck. She underwent pyelolithotomy for recurrent kidney stones 5 years back. Her neurologic examination revealed diminished bulk overall, decreased tone, power and reflexes in lower limbs with down-going plantars. Labs (except potassium) and electrocardiography were normal. Nerve conduction studies (NCS) favored the diagnosis of Guillain-Barre syndrome. Intravenous immunoglobulin and potassium replacement was started. After a week, patient's condition had a remarkable improvement. We did a repeat NCS which came out to be normal. Potassium serum values were normal too. We turned back to the other differential diagnosis of HPP. Our case report highlights several important factors. Firstly, it states that the NCS can be deceptive in patients with flaccid paralysis, especially when we are not suspecting hypokalemia. It further explains the importance of suspecting a diagnosis of HPP in a patient presenting with features of Guillain-Barre syndrome following an NCS.