Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan.

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, obesity, and mental retardation. Herein, we present a classic case of LMBBS with generalized body edema, abdominal distension, and positive fluid thrill in a 32-year-old male. LMBBS patients are friendly with a happy predisposition, proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in LMBBS patients.

Hoffmann's Syndrome Secondary to Pendred Syndrome: A Rare Case.

Hoffmann's syndrome (HS) is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of muscles, especially calf muscles. We report a case of a 28-year-old male who presented with the history of generalized weakness with swelling in lower limbs and gradual progressive facial puffiness for the past few years. Physical examination of our patient showed diffuse bilateral pseudohypertrophy of deltoid and calf muscles with positive Gowers' sign (GS). Laboratory results of low serum thyroid hormones and muscle biopsy report confirmed the diagnosis of HS. Pendred syndrome (PS) is a genetic disorder leading to congenital bilateral sensorineural hearing loss with mild hypothyroidism. On account of his congenital bilateral sensorineural hearing loss and negative serum anti-thyroid peroxidase antibodies (anti-TPO Ab), PS was declared as the cause of HS in this case. Our patient showed excellent response to levothyroxine therapy with progressive improvement in his symptoms. We outlined this case due to its rarity.