Abstract:
Vitamin B12 deficiency is an important cause of neurodevelopmental delay and progression. Skin manifestations include hyperpigmentation predominantly in the extremities, especially in the hands and feet, glossitis, nail changes and early graying. We present the case of an infant with dermatological, neurological and hematological involvement.
We report the case of a 7-month-old female, presenting generalized pallor, hypotonia and hyperpigmented lesions on hands and feet. Maternal medical history with anemia during pregnancy, denies any type of diet, is obtained by euthyroid delivery, weighing 3195 grams, without complications during delivery. She is maintained with exclusive breast feeding. At one month of life, she starts with diaper rash complicated with candidiasis without remission, frequent gastrointestinal and respiratory infections without requiring hospitalization. At 6 months of age, she started with psychomotor retardation with lack of head support, sitting and hypoactivity without repercussions on height and weight. On admission she presented fever 38°C, lack of milestones: social smile, gaze fixation, sitting with support. On examination she presented hyperpigmented lesions on the dorsum of hands and feet without previous inflammatory phenomena, dermatosis in the inguinal region affecting folds with satellite papules and diffuse erythema. For important antecedents, myeloproliferative syndrome and immunodeficiency were ruled out as the main differential. During her stay she presented neurological regression, lack of sucking and focal seizures. When dermatological, neurological, oncological and infectious diagnoses were ruled out as the primary cause, a nutritional factor was evaluated and a therapeutic trial was started with the administration of vitamin B12, levels were taken after 2 weeks of management, which reported a decrease in cobalamin, so 3 doses of intramuscular vitamin B12 at 1mg/kg were administered with oral supplementation.
Admission labs show hypochromic macrocytic anemia, lymphopenia, neutropenia and plateletopenia Hb 9.3 (10.5-12.5 g/dl), MCV: 86.8 (70-78 fl), HCM: 30.7 (30-33 g/dl), Hto: 26. 3 (33-36%), leukocytes: 4.16 (6-17.5), neutrophils 0.39 (1-8.5%), lymphocytes: 3.69 (4-13.5%), monocytes: 70, eosinophils 0, basophils 0, platelets: 38000 (150-350 000 103/ml),Blood smear: 13% neutrophils, 81% lymphocytes, decreased white series with anisocytosis, poikilocytosis, dacryocytes and schistocytes, Normal blood chemistry. DHL: 1078 (309-1222 U/L), elevated ferritin: 1254 (8-182 ng/ml), folic acid levels 9.4 (>5.9 ng/ml), Cobalamin 212 pg/ml (259-1576) decreased values. A simple cranial CAT scan was performed reporting cortical atrophy. After management, the patient presented resolution of pancytopenia and clinical manifestations without neurological repercussions.
We present an infant with hyperpigmentation of the hands as an atypical manifestation, with neurological involvement. Hyperpigmentation due to vitamin B 12 deficiency is characterized by affecting photoexposed sites in acral areas. A biopsy was performed with histopathological report of pigmentary incontinence, which is a hereditary, X-linked genodermatosis, with dominant character and 100% penetrance, which is a consequence of a mutation in the IKBKG gene; It has been reported in the literature that in megaloblastic anemia there is a defect in the transport or incorporation of melanin into the keratinocytes which secondary to vitamin B 12 deficiency can develop pigment incontinence, classified as stage 3 for having hyperpigmented lesions. Currently the management consists of intravenous supplementation until clinical improvement, which when administered in this case describes the remission of clinical manifestations.
Audience Take Away Notes:
- The importance of thinking about nutritional deficits in patients presenting with characteristic dermatologic lesions and progressive neurologic deterioration
- The importance of nutrition in pregnancy as a risk factor
- Identify elemental lesions associated with nutritional deficits
- Early approach for complications that may affect the patient's condition
