We describe a 7-year old boy with subacute progressive quadriplegia and "sighing" respirations. Severe biotinidase deficiency was established, and the patient demonstrated complete recovery with biotin supplementation. [ncbi.nlm.nih.gov]

On examination, he had failure to thrive, perioral and perianal rash, alopecia with hypopigmented hair, seborrhoeic dermatitis, bilateral blepharitis, respiratory distress and stridor. [ncbi.nlm.nih.gov]

Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms. [ncbi.nlm.nih.gov]

In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency. [ncbi.nlm.nih.gov]

Individuals with untreated biotinidase deficiency may develop problems such as hypotonia (low muscle tone), eczema (skin rash), alopecia (hair loss), seizures, developmental delay, breathing problems, ataxia (balance, coordination and movement problem [thinkgenetic.com]

Some other common features of BTD include eye infections, like pink eye (conjunctivitis), hair loss (alopecia), and a certain type of skin rash called eczema. [rarediseases.org]

Rashes may be mistaken for eczema, seborrheic dermatitis, or the dermatoses observed in zinc deficiency. [emedicine.medscape.com]

Some symptomatic children showed residual impairments: hearing impairment (n 2), optic atrophy (n 2), both hearing impairment and optic atrophy (n 2). In addition, symptomatic children had a higher risk of delayed motor and speech development. [ncbi.nlm.nih.gov]

All 11 symptomatic children had residual enzyme activity of n 2), optic atrophy ( n 2), both hearing impairment and optic atrophy ( n 2). In addition, symptomatic children had a higher risk of delayed motor and speech development. [doi.org]

Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. [ncbi.nlm.nih.gov]

Two of whom became symptomatic with abnormal gait, alopecia, skin rashes and developmental delay. A need for more congruency in diagnostic, treatment and educational practices was highlighted across the province. [ncbi.nlm.nih.gov]

We describe a 7-year old boy with subacute progressive quadriplegia and "sighing" respirations. Severe biotinidase deficiency was established, and the patient demonstrated complete recovery with biotin supplementation. [ncbi.nlm.nih.gov]