Autosomal Dominant Polycystic Kidney Disease

A 41-year-old woman with newly diagnosed hypertension reports persistent bilateral flank pain. She gives a family history of “kidney problems.” On urinalysis, she is noted to have microscopic hematuria. An ultrasound and abdominal CT scan show bilateral polycystic kidneys.

Case Discussion:

Poly Cystic Kidney Disease:

Introduction: Polycystic kidney disease (PKD) is a manifestation of a group of inherited disorders resulting in renal cyst development. In the most common form, autosomal-dominant polycystic kidney disease (ADPKD), extensive epithelial-lined cysts develop in the kidney; in some cases, abnormalities also occur in the liver, pancreas, brain, arterial blood vessels, or a combination of these sites. It is the most common tubular disorder of the kidney, affecting 1 in 300 individuals.
It is most frequently seen in the third and fourth decades of life, but can be diagnosed at any age.

Pathophysiology: ADPKD results from mutations in either of 2 genes that encode plasma membrane–spanning polycystin 1 (PKD1) and polycystin 2 (PKD2).2 Polycystins regulate tubular and vascular development in the kidneys and other organs (liver, brain, heart, and pancreas).
PKD1 and PKD2 are colocalized in primary cilia and appear to mediate Ca2+ signaling as a mechanosensor, essential for maintaining the differentiated state of epithelia lining tubules in the kidney and biliary tract. These mutations result in many abnormalities including increased proliferation and apoptosis and loss of differentiation and polarity.

An Infant With Congenital Arm Deformities And Thrombocytopenia

The X ray shown above is of an infant born with congenital hand and arm deformities. This patient was presented to the emergency department with bleeding from the nose and mouth in his first week of life.

1. What is the most probable diagnosis?
2. What is the usual cause of mortality in such patients?
3. What is its mode of inheritance?
4. How it can be differentiated from Fanconi anemia clinically?

Answers And Discussion:

A 30 Year Old Woman Presented With A Tender Nodule On Her Upper Eyelid

A 30-year-old woman presented with a tender nodule on the upper eyelid along with crusting and erythema to both eyelids. The image is shown below:

The condition was diagnosed as an external hordeolum.
The physician recommended that she apply warm moist compresses to her eyelids 4 times a day. Her hordeola resolved within 7 days.

Case Discussion:

Introduction: A hordeolum is an acute painful infection of the glands of the eyelid, usually caused by bacteria. Hordeola can be located on the internal or external eyelid. Internal hordeola that do not completely resolve become cysts called chalazia. External hordeola are commonly known as styes.

A 3 Month Old Infant With Recurrent Forceful Vomiting

This 3-month-old boy was brought to the pediatrician's office with the complaints of recurrent forceful vomiting of milk since last 2 months. On examination his weight was found to be 3.4 kg. His birth weight was told to be 3.5 kg. Infant was moderately dehydrated and looked anxious and hungry. Certain strange movements were noticed by parents in upper abdomen especially after feeds.

1. What is the most probable diagnosis?
2. Presence of which clinical sign almost confirms the diagnosis?
3. Suggest its salient radiological and USG features
4. What is the management for this condition?

Answers And Discussion:

An 82 Year Old Female Presents With Several Episodes Of Dizziness

An 82-year-old white female is admitted to the hospital for observation after presenting to the emergency department with dizziness. After being placed on a cardiac monitor in the ER, the rhythm strip below was recorded.

There is no past history of cardiac disease, diabetes, or hypertension. When asked in more detail the patient discloses several prior episodes of transient dizziness and one episode of brief syncope in the past. Physical examination is unremarkable.

What is the diagnosis and how will you manage this patient?

Answer And Discussion:

A 35 Year Old G5P4 Has A Retained Placenta After A Vaginal Delivery

A 35-year-old G5P4 woman at 39 weeks’ gestation is undergoing a vaginal delivery. She has a history of previous myomectomy and one prior low-transverse cesarean delivery. She was counseled about the risks, benefits, and alternatives of vaginal birth after cesarean, and elected a trial of labor. She proceeded through a normal labor. The delivery of the baby is uneventful. The placenta does not deliver after 30 minutes, and a manual extraction of the placenta is undertaken. The placenta seems to be firmly adherent to the uterus.

1. What is the most likely diagnosis?
2. What is your next step in management for this patient?

Answer And Discussion:

1. What is the most likely diagnosis?
Answer: Placenta accreta.

2. What is your next step in management for this patient?

Answer: Hysterectomy.

Case Discussion: 

A Neonate With Cephalhematoma

This neonate presents 24 hours after birth with a soft cystic swelling limited to the right parietal bone. It had a well-defined outline and overlying scalp was normal. It did not become tense with crying of the baby. The baby was delivered vaginally to a healthy mother and there were no immediate postnatal complications.

A diagnosis of Cephalohematoma was made. 

Case Discussion: 

Cephalhematoma is one of the most important birth injuries seen in babies born vaginally. It usually consists of soft fluctuant, cystic swelling usually on the parietal bones. There is no discoloration of the overlying skin. It usually results from subperiosteal hemorrhage. It is a slow process so it

often appears late even several hours after birth. It is usually noticed on the second or third day of birth by the parents. It is usually limited on the surface of one cranial bone.

Candidal Intertrigo Affecting The Neck In An Infant

An infant is brought to the clinic with a rash on his neck. The child is otherwise healthy with no other systemic abnormalities. On examination the affected part of the skin was red and consisted of small vesicles and papules.

What is the most likely diagnosis?

Candidal intertrigo affecting the neck.

Case Discussion:

Candidal Intertrigo Affecting The Neck:

A 4 Year Old Child Presents With Recurrent Respiratory Infections, Ataxia And Telangiectasia.

This 4 year-old child is presented with recurrent respiratory infections. Parents mention that lately,
he has been falling frequently and walking in strange way.
On examination there are telangiectasia on the bulbar conjuctiva, mucus membranes and skin.

1. What is the most probable diagnosis?
2. Why respiratory infections are more common in this condition?
3. What is oculomotor apraxia?
4. What is the prognosis of this illness?
5. What is its mode of inheritance?

Answers And Discussion:

A Child With Palpable Purpura on Lower Limbs.

A 5-year-old child was admitted in the pediatric ward with features of  palpable purpuric spots over both lower limbs, loose motions 5-6 times/day containing blood and mucus since last 4 days. Parents have noticed that child is passing red colored urine for last 2 days.
Examination of child revealed mild anemia, purpuric rash over both lower limbs without any lymphadenopathy or hepatosplenomegaly.
Urine examination revealed sheets of red cells/hpf and mild proteinuria. No significant abnormality was found in CBC examination.

The rash is shown in the picture below:

1. What is the most probable diagnosis?
2. How to manage it?
3. What is its prognosis?

Answers And Discussion:

A Case Of Acne Vugaris In An Adolescent Boy

An adolescent boy presents with complains of severe acne on face. The picture is shown above.How would you approach to this case:

Case Discussion:

Acne Vulgaris:  This adolescent is suffering from acne vulgaris.

Pathophysiology: Acne happens in the sebaceous follicles instead of hair follicles. They have large and abundant sebaceous glands and usually lack hair. Obstruction of the follicular opening results in the clinical lesions of acne. Diet, soaps and sex do not have much role in its causation. Acne often improves in summer while flare up during winter.

Whiteheads or closed comedones are likely to progress to inflammatory acne (pustule and nodule formation). So, obviously they are more problematic than blackheads or open comedones.

Causes Of Neonatal Acne: Maternal androgens cross the placental barrier and reach the fetus causing
the enlargement of the sebaceous glands which become more active leading to increased sebum production and thereby causing acne in the neonate.

Several factors are incriminated in its pathogenesis as :

• increased sebum secretion because of increased end-organ sensitivity to androgens, 
• follicular duct hypercornification and
• increased colonization with a bacterium called Propionibacterium acnes. These commensal bacteria play a vital role in its causation and have been found in increased number in acne.

Clinical Features: Its onset is usually around 12-14 years of age. It often consists of a polymorphic eruption consisting of papules, pustules, nodules, cysts and typically open and closed comedones on a background of oilness. The lesions heal with pitted or hypertrophic scars.

Enlarged Adenoids On Lateral Pharyngeal X Ray

This lateral pharyngeal X ray was done for a 5 year old child who was brought to a pediatrician with the complaints of snoring, recurrent respiratory infections and chronic suppurative otitis media and peculiar facies.

What Is the most likely Diagnosis?

Lateral pharyngeal X-ray reveals obliteration of nasopharyngeal air column and adenoidal hypertrophy. All these features along with this X-ray are very much suggestive of enlarged adenoids in this child. Digital palpation or indirect visualization by pharyngeal mirror in older children helps in the diagnosis of this condition.

Case Discussion:

A Patient With Klebsiella pneumoniae Infection

A patient in the hospital develops pleuritic chest pain, shortness of breath, fever, chills, productive cough, and colored sputum after 3 days of being in the hospital for major surgery.
Physical examination shows tenderness to palpation without any areas of increased tactile fremitus. Blood and sputum cultures confirm gram-negative rods that ferment lactose, have a large mucoid capsule, and form viscous colonies.
The patient subsequently dies from her infection. Which of the following is most likely to be found at autopsy?

(A) Acute inflammatory infiltrates from bronchioles into adjacent alveoli
(B) Congestion, red hepatization, gray hepatization, and resolution
(C) Diffuse, patchy inflammation localized to the alveolar wall interstitium
(D) Intra-alveolar hyaline membranes without alveolar space exudates
(E) Predominantly intra-alveolar exudate resulting in consolidation.

Answer And Discussion:

A Case Of Gastric Carcinoma

A 72-year-old Japanese immigrant was brought in by his family with complaints of difficulty in eating, vague abdominal pain, and weight loss. Endoscopy and biopsy confirmed gastric adenocarcinoma. Liver metastases were found on abdominal CT. The family and the patient chose only comfort measures and the patient died 6 months later.

Case Discussion:  

Introduction: Gastric cancer is a malignant neoplasm of the stomach, usually adenocarcinoma..

Epidemiology:  The median age at diagnosis is 70 years and median age at death from gastric cancer is 73 years.

• Stomach cancer occurs in 10.8 per 100,000 men and 5.4 per 100,000 women in a year. In 2008, the United States prevalence was 37,739 men and 28,271 women, with a lifetime risk of 0.88%.

• High rates of stomach cancer occur in Japan, China, Chile, and Ireland.

Pathophysiology: Eighty-five percent of stomach cancers are adenocarcinomas with 15% lymphomas and GI stromal tumors.

 Adenocarcinoma is further divided into two types:

~ Diffuse type—Characterized by absent cell cohesion, these tumors affect younger individuals infiltrating and thickening the stomach wall; the prognosis is poor. Several susceptibility genes

have been identified for this type of cancer.

~ Intestinal type—Characterized by adhesive cells forming tubular structures, these tumors frequently ulcerate.

A Case Of Intra Uterine Growth Retardation

A 32-year-old primigravida is seen in your office at 33 weeks gestation for a routine prenatal visit. Her gestational age was calculated by her last normal menstrual period which was consistent with an ultrasound performed at 8 weeks gestation. Her pregnancy has been uneventful to date, although she has continued to smokeone pack or more of cigarettes daily. She states that she has been feeling normal fetal movement and no uterine contractions.
On examination, her height is 5 ft 6 in., her weight is 118 lb (53.5 kg), and her BP is 90/60 mm Hg. Her fundal height is 26 cm. On ultrasound, you note a single pregnancy with an estimated fetal weight of 900 g, which is at the 3rd percentile for gestational age.

1. What is the most likely diagnosis?
2. What other important items should be noted on the ultrasound?
3.  What is the next step in the management of this patient?
4. What are potential complications of the patient’s disorder?

Answers And Case Discussion: 

An Infant With BCG Adenopathy

An Infant was brought to the clinic by her concerned mother who has noticed a swelling in the baby's armpit while giving him bath yesterday. On history mother mentions the baby was given BCG vaccine a few weeks ago.

1. . What is this problem that occurred in this infant after few weeks of administration of BCG vaccine?
2. When it is more likely to occur?
3. What treatment should be offered to this infant?
4. What is the usual sequence of events after BCG vaccination?
5. What are the main advantages of BCG vaccine administration?

Answers:

A 2 Year Old Child With Milk Bottle Dental Caries

A 2 year old boy was seen by a general practitioner for an upper respiratory infection. While doing the physical examination, the doctor noticed poor dental hygiene and dental caries. The picture is shown above.

What could be the most likely cause?

Milk Bottle Dental Caries

Case Discussion :

A 5 Month Old Baby With Fussiness

A couple presents to the emergency department with their 5-month-old son. The parents report that their son has never been fussy. However, last night he began to cry incessantly and neither changing his diapers nor feeding was able to calm him. This morning he had become very lethargic and warm, and his temperature reached 39.4° C (103° F).
The physician examines the baby and notices some rigidity in his nuchal region. The emergency department physician becomes extremely concerned and orders a lumbar puncture which reveals an elevated opening pressure, elevated protein level, decreased glucose level, and numerous polymorphonuclear cells.
What is the most likely cause of this patient’s symptoms?

Discussion:

Folic Acid Deficiency Anemia

Essentials Of Diagnosis:

• Macrocytic Anemia
• Macro ovalocytes and hypersegmented neutrophils on peripheral blood smear
• Normal serum vitamin B12 levels
• Reduced folate levels in red blood cells or serum.

Introduction:

Folic acid is present in most fruits and vegetables ( especially citrus fruits and green leafy vegetables) and daily requirements of 50-100 mcg/d are usually met in the diet. 

Causes Of Folic Acid Deficiency: By far the most common cause of folic acid deficiency is inadequate dietary intake. Alcoholic or anorexic patients who do not eat fresh fruits and vegetables , and those who over cook their food are candidates for folate deficiency. Reduced folate absorption is rarely seen , since absorption occurs from the entire gastrointestinal tract. However certain drugs may lead to decreased folic acid absorption resulting in folate deficiency. 

Folic acid requirements are increased in pregnancy, hemolytic anemias and exfoliative skin diseases and the increased requirements may sometimes not be met by regular diet. The causes are summarized below:

A Patient Presents With Maculopapular Rash Of Penicillin Allergy

A 22 Year old patient presents with community acquired pneumonia and was reported to have allergy to penicillin. How would you approach this patient?

Clinical Approach To  Case Of Penicillin Allergy:

History Of Presenting Complaints: