Question

A 6-month old male infant was brought to his pediatrician’s office with a painful, expanding mass in his right upper thigh which was first noted just hours after he fell down three uncarpeted steps in his home. The child appeared to be in severe distress. An x-ray revealed no fractures, but a soft tissue swelling, consistent with a hematoma. The child’s mother stated that soon after the child began to crawl, his knees occasionally became swollen and seemed to be painful. The pediatrician had their suspicions based on clinical presentation, but decided to do a workup before communicating any information to the parent. A few days later, the child was circumcised after which there was bleeding noted from post circumcision frenulum tears. Over the next five hours, the child was noted to have three soaked pressure dressing changes. The patient was transferred to the pediatric intensive care unit. The child’s test results are as follows:

At birth the APGAR score was 9 at 1 & 5 minutes respectively

Birth weight: 2.94 kg               Birth length: 50 cm            Head circumference: 34 cm

Blood type: B+

Lab workup:   Hgb: 12.7 gm/dL      Hematocrit: 38.3%              WBC: 11.5 k/mm3

Platelet ct: 183 k/mm3           Antibody screen: Neg                       Red cell ct: 4.4 mil/mm3

MCH: 28 pg               MCHC: 34 g/dL                    MCV: 79 fm/L

Lymphocytes: 8000 mm3                  Monocytes: 550 mm3            Eosinophils: 460 mm3

APTT test:57sec                                PT test: 38 sec                        PTT test:90 sec         

1. What is the child’s diagnosis? How did the infant get this diagnosis?

2. How is this diagnosis treated?

3. What are other symptoms that could be seen in this infant?

4. What pathway(s) is involved in this diagnosis?

Answer 1

What is the child’s diagnosis? How did the infant get this diagnosis?

Vitamin K deficiency bleeding abbreviated as VKDB characterized by uncontrollable bleeding because vit K deficiency. The laboratory result of high APTT,PT, low RBCand low MCH.

How is this diagnosis treated?

An injection of vitamin K would be given generally to treat this. Specific treatment varies.

What are other symptoms that could be seen in this infant?

Other possible symptoms arae bruises on the baby's head, pale skin and blood in vomit and stool.

What pathway(s) is involved in this diagnosis?

Liver plays mmain role in the metabolsim of vitamin K. Vitamin K is reduced to quinone in the presence of quinone reductase which then concverted to active state which helps in the process of coagulation of blood by promoting the coagulated factors into their mature forms.