Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5).

Limb-girdle muscular dystrophy (LGMD) comprises a heterogeneous group of rare genetic disorders characterised by progressive weakness and atrophy of the muscles, primarily affecting the pelvic and shoulder girdles. A developmentally normal, early adolescent male presented with complaints of difficulty in using all four limbs with a waddling gait, gradually progressive over the last 5 years. No significant family history was noted. We noticed thinning and atrophy of both upper and lower limbs, proximal more than distal, associated with wasting, hypotonia and decreased power in all four limbs. Gower's sign was positive. The winging of the scapula was present. All deep tendon reflexes and superficial reflexes were present with flexor response in both plantars. The sensory system was normal. An initial diagnosis of muscular dystrophy was made and confirmed with clinical exome sequencing, which showed a pathogenic variant indicating a very rare type of autosomal recessive LGMD. This disease was previously named LGMD2C and has now been renamed under LGMDR5.

A Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.

Kabuki syndrome is an autosomal dominant disorder characterized by distinct facial features, including long palpebral fissures, a short columella with a flat, broad nasal tip, ptosis, and cleft lip/palate. The syndrome was named for the resemblance of the facial features to the make-up worn by traditional Kabuki performers. We report the case of a 10-month-old female infant admitted for cleft palate repair. The patient exhibited normal developmental milestones but had recurrent respiratory infections secondary to her cleft lip and palate. The child presented with significant facial dysmorphism, including long palpebral fissures with ptosis, multiple preauricular skin tags, a short columella with a depressed nasal tip, and microtia. These findings prompted differential diagnoses of Goldenhar syndrome, branchio-oculo-facial syndrome, and Kabuki syndrome. Whole exome sequencing confirmed a diagnosis of Kabuki syndrome. Given the autosomal dominant nature of this disorder, early identification and management of potential complications are crucial, as is parental counseling regarding the implications for future pregnancies.

Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.

Ehlers-Danlos syndrome is a group of connective tissue disorders with 14 subtypes, involving joint hyperlaxity, tissue fragility, hypertensive skin and other systemic organs with an incidence of 1 in 1 000 000 worldwide. We report a middle childhood female born of second degree consanguineous marriage with limping gait with muscle weakness, with normal development and IQ. Examination revealed microcornea, distal joint laxity of fingers and wrist, hypotonia and broad-based limping gait. Fracture dislocation right hip was managed by fixation. With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlos syndrome (musculocontractural type-1). Hence, genetic counselling was done and prognosis of the child was explained.

A Case of Idiopathic Twenty-Nail Dystrophy.

In children, nail diseases can be either congenital or acquired, with an occurrence rate of 3 to 11% in the pediatric population. In both fingers and toes, rough, accentuated linear ridges of the nails are referred to as trachyonychia. This condition most commonly occurs in childhood, with a higher prevalence in males. Twenty-nail dystrophy refers to a disorder affecting all twenty nails. While the cause is idiopathic, it may also be associated with other dermatological conditions. The disorder typically affects the nails on both hands and feet in a bilateral and symmetrical pattern. The primary concern for the child is usually cosmetic disfigurement, requiring regular follow-up and long-term care. In this case report, we describe a 10-year-old boy who presented with a six-year history of twenty-nail dystrophy, with no significant family history of skin or nail diseases. The child exhibited no other symptoms aside from alopecia areata. This condition is self-limiting and is managed symptomatically. This case report aims to highlight the importance of physical examination in the early diagnosis and treatment of nail disorders.

Coarctation of the Aorta and Late-Onset Sepsis With Supraventricular Tachycardia: A Clinical Case Review.

We report a case of an 11-day-old male infant who presented to our hospital with complaints of breathing difficulty and cough for two days prior to admission. The child had a seizure post-admission which was controlled with phenobarbitone. The child was connected to a mechanical ventilator. The baby also had persistent tachycardia, which upon doing an electrocardiogram (ECG) led to a diagnosis of supraventricular tachycardia (SVT). Additional investigations revealed the existence of late-onset sepsis (LOS), which was treated with appropriate antibiotics. In view of weak femoral pulses with normal brachial pulses, a diagnosis of coarctation of the aorta (CoA) was entertained. The diagnosis was confirmed by an echocardiogram, and the baby was transferred to a higher-level medical center for surgical correction. Regrettably, the baby succumbed to heart failure and shock on the 12th day of life. This case highlights the infrequency of CoA accompanied by SVT. The case delves into the challenges of diagnosing the condition, the necessary medical interventions, and the unforeseen complications that must be considered to reduce mortality in such circumstances.

An unusual case of Pseudohypoaldosteronism coexisting with cystic fibrosis.

Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. It is caused by mutation in SCNN1A gene with clinical features like failure to thrive in infancy, hyponatraemia, hyperkalaemia and metabolic acidosis. We present a male infant with seizures, hyperkalaemia and with failure to thrive, diagnosed at day 6 of life. The baby required repeated correction for hyperkalaemia; hence, after ruling out treatable causes for hyperkalaemia, exonerated sequencing was done which showed pathogenic mutation for cystic fibrosis and recessive mutation for pseudohypoaldosteronism. But the child was clinically in favour of pseudohypoaldosteronism. Hence, features of pseudohypoaldosteronism predominate cystic fibrosis; they both may coexist.